Head of the Office: Akira Hishinuma, MD, PhD

Head of the Office: Akira Hishinuma, MD, PhD
This department was founded in 1973 by Professor Ritsuji Yamada as the Department of Clinical Laboratory Medicine and was succeeded in 1993 by Professor Tamio Ieiri. The current chair is Professor Akira Hishinuma who was appointed in 2010 and is also chair of the Clinical Laboratory Center of Dokkyo Medical University Hospital. The department is engaged in Education (Medical School, Nursing School, and post-graduation residency) and Research. The main research area of this department includes genetic analysis of thyroid diseases and genetic identification of bacteria and drug resistance as well as standardization of thyroid function tests. Anyone who is interested is welcome to contact us.
School of Medicine:
1st year | Early exposure to Clinical Medicine |
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2nd year | Community Based Medical Training II PBL Tutorial II |
4thyear | Lectures on Clinical Laboratory Medicine, Infection Control, and Medical Genetics, and Genetic Counseling. |
5th year | Clinical Clerkship in Laboratory Medicine, throughout the year |
Post Medical Training | Initial two-year basic training
Residency to obtain board certification in Laboratory Medicine |
Graduate School | Doctorate courses, and lectures on Research and Publication. |
Japanese Society of Laboratory Medicine (JSLM)
Japan Society of Clinical Chemistry (JSCC)
The Japan Association of Clinical Laboratory Science (JCLS)
International Federation of Clinical Chemistry and Laboratory Medicine (IFCC)
American Association of Clinical Chemistry (AACC)
Japan Thyroid Association (JTA)
The Japan Endocrine Society (JES)
The Japan Diabetes Society (JDS)
The Japanese Society of Internal Medicine (JSIM)
American Thyroid Association (ATA)
Asia and Oceania Thyroid Association (AOTA)
Endocrine Society (END)
The Japan Society of Human Genetics
Japanese Society of Genetic Counseling
The Japanese Society for Gene Diagnosis and Therapy
The Japanese Association of Infectious Diseases
Japanese Society of Chemotherapy
Japanese Society for Infection Prevention and Control
Japanese Society of Clinical Microbiology (JSCM)
Kingan, TG and Hishinuma, A. (1987)
Transport and metabolism of L-glutamic acid by abdominal ganglia of the hawk moth, Manduca sexta.
Comp. Biochem. Physiol. 87c(1): 9-14.
Hishinuma A, Hockfield S, McKay R, and Hildebrand J. G. (1988)
Monoclonal antibodies reveal cell- type-specific antigens in the sexually dimorphic olfactory system of Manduca sexta. (1) Generation of monoclonal antibodies and partial characterization of the antigens.
J. Neurosci. 8(1); 296-307.
Hishinuma, A., Hockfield, S., McKay, R., and Hildebrand, J. G. (1988)
Monoclonal antibodies reveal cell- type-specific antigens in the sexually dimorphic olfactory system of Manduca sexta. (2) Expression of the antigens in postembryonic development.
J. Neurosci. 8(1); 308-315.
Itabashi, H., Hishinuma, A., Yoshida, K., Takano, Y., Naito, T., Sato, A., and Takemura, Y. (1990)
A case of relapsing polychondritis associated with hemolytic anemia.
Japanese Journal of Medicine 29(1): 91-94.
Namba, J. and Hishinuma, A.(1991)
Correlation of atrial natriuretic peptide concentration in plasma and atria with blood glucose levels in diabetic animals.
Dokkyo J. Med. Sci. 18: 117-125.
Hishinuma, A., Yamanaka, T., Kasai, K., So, S., Bamba, N., Motohashi, S., and Shimoda, S.-I. (1992)
Proliferation of a human thyroid cancer cell line is stimulated by protein tyrosine kinase activity but inhibited by cAMP-dependent protein kinase activity.
J. Endocrinol. Invest. 15 (Suppl. 3): 48
Kasai, K., Yamaguchi, F., Hosoya, T., Ichimura, K., Bamba, N., Emoto, T., Hiraiwa, M., Hishinuma, A., Hattori, Y., and Shimoda, S.-I. (1992)
Effects of inorganic iodide, epidermal growth factor and phorbol ester on hormone synthesis by porcine thyroid follicles cultured in suspension.
Life Sci. 51(14): 1095-1103.
Hishinuma, A., Kasai, K., Ichimura, K., Emoto, T., and Shimoda, S.-I. (1992)
Effects of epidermal growth factor, phorbol ester, and retinoic acid on hormone synthesis and morphology in porcine thyroid follicles cultured in collagen gel.
Thyroid 2(4): 351-359.
Hishinuma, A., Yamanaka, T., Kasai, K., So, S., Bamba, N., and Shimoda, S.-I. (1994)
Growth regulation of the human papillary thyroid cancer cell line by protein tyrosine kinase and cAMP-dependent protein kinase.
Endocrine J. 41(4): 399-407.
Hishinuma, A., Yamanaka, T., Kasai, K., So, S., Tseng, C-C., Bamba, N., Ohtake, H., and Shimoda S.-I. (1995)
Different growth control of the two human thyroid cell lines of adenomatous goiter and papillary carcinoma.
Thyroid 5(1): 41-46.
Takahashi, K., Suzuki, N., Horiuchi, Y., Hishinuma, A., and Ieiri, T. (1995)
Reproducibility of routine methods using total cholesterol analysis as a model.
Proceedings of the 8th international symposium quality control. pp.120-126.
Hishinuma, A., Yoshida, A., Arimura, M., Kobayashi, T., and Ieiri, T. (1996)
New RT-PCR primers for human thyroglobulin gene.
Dokkyo J. Med. Sci. 23: 79-83.
Arimura, M., Ohuchi, T., Suzuki, Y., Hishinuma, A., Oikawa, S., Sato, J., and Ieiri, T. (1996)
Clinical significance of direct detect of Mycobacterium Tuberculosis in respiratory specimens by polymerase chain reaction.
Dokkyo J. Med. Sci. 23(3): 143-148.
Hishinuma, A., Kanno, Y., Kasai, K., Shimoda, S.-I., and Ieiri, T. (1997)
Pathogenesis of a missense mutation in the thyroglobulin gene in a patient with congenital goiter.
Thyroid 7(3):510
Hishinuma, A., Takamatsu, J., Kanno, Y., Yoshida, S., and Ieiri, T. (1998)
Analysis of the promoter of the thyrotropin receptor gene and the entire genomic sequence of thyroid transcription factor-1 in familial congenital hypothyroidism due to thyrotropin unresponsiveness.
Thyroid 8(4):305-309.
Hishinuma, A., Kasai, K., Masawa, N., Kanno, Y., Arimura, M., Shimoda, S.-I., and Ieiri, T. (1998)
Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport.
Endocrine J. 45(3):315-327.
Hishinuma, A., Kuribayashi, T., Kanno, Y., Onigata, K., Nagashima, K., and Ieiri, T. (1998)
Sequence analysis of thyroid transcription factor-1 gene reveals absence of mutations in patients with thyroid dysgenesis but presence of polymorphisms in the 5' flanking region and intron.
Endocrine J. 45(4):563-567.
Hishinuma, A., Ohyama, N., Kanno, Y., Matsuura, N., and Ieiri, T. (1999)
Analysis of thyroglobulin gene in two families with congenital goiter.
Thyroid 9(2):213
Hishinuma, A., Takamatsu, J., Ohyama, Y., Yokozawa, T., Kanno, Y., Kuma, K., Yoshida, S., Matsuura, N., and Ieiri, T. (1999)
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
J. Clin. Endocrinol. Metab. 84(4):1438-1444.
Hishinuma, A., Ieiri, T., and Nagakubo, N. (1999)
Increased expression of molecular chaperones and Ire1p kinase in thyroids of goitrous patients with missense mutations of thyroglobulin gene.
XX World Congress of Pathology and Laboratory Medicine pp135-139
Monduzzi Editore S.p.A., Bologna, Italy
Horiuchi, Y., Takanohashi, K., Oikawa, S., Numabe, A., Hishinuma, A., and Ieiri, T. (2000)
Measurement of serum low density lipoprotein-cholesterol in patients with hypertriglycemia.
Electrophoresis 21(2):293-296.
Kuribayashi, T., Hishinuma, A., Kanazawa, S., Nihei, Y., Hoshi, M., Oyama, M., Nitta, A., Ieiri, T., and Arisaka, O. (2000)
Sequence analysis of thyroid transcription factor-2 (TTF-2) gene in ten patients with congenital hypothyroidism due to thyroid dysgenesis.
Clin. Pediatr. Endocrinol. 9(1):37-40.
Hishinuma, A., Furudate, S., Oh-Ishi, M., Nagakubo, N., Namatame, T., and Ieiri, T. (2000)
A novel missense mutation (G2320R) of the thyroglobulin gene causes hereditary hypothyroidism of the rdw rat.
Endocrinology 141(11):4050-4055.
Kasai, K., Banba, N., Hishinuma, A., Matsumura, M., Kakishita, H., Matsumura, M., Motohashi, S., Sato, N., and Hattori, Y. (2000)
15-deoxy-Δ12,14-prostaglandin J2 facilitates thyroglobulin production by cultured human thyrocytes.
Am. J. Physiol. Cell Physiol. 279:C1859-1869.
Hishinuma, A., Ohyama, Y., Kuribayashi, T., Nagakubo, N., Namatame, T., Shibayama, K., Arisaka, O., Matsuura, N., and Ieiri, T. (2001)
Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis.
Eur. J. Endocrinol. 145(4):385-389.
Ieiri, T., Takahashi, K., Ikeda, M., Takanohashi, K., Matsuda, R., and Hishinuma, A. (2002)
Free T3 assay imprecision during routine testing exceeded an initial estimation using NCCLS EP5-A procedures.
Global Standardization and Advanced Quality Management '01 Quality Control in the Clinical Laboratory, pp84-87, EIBUN PRESS
Kita, J., Kobayashi, E., Hishinuma, A., and Kaneda, Y. (2003)
Genetic modification of cold-preserved renal grafts using HSP70 or bcl-2 HVJ-liposome method.
Transplant Immunology 11: 7-14.
Kotani, T., Umeki, K., Kawano, J. I., Suganuma, T., Hishinuma, A., Ieiri, T., and Harada, S. (2003)
Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings.
Clin. Enodocrinol. 59(2): 198-206.
Baryshev, M., Sargsyan, E., Wallin, G., Lejnieks, A., Furudate, S-I., Hishinuma, A., and Mkrtchian, S. (2004)
Unfolded protein response is involved in the pathology of human congenital hypothyroid goiter and rat non-goitrous congenital hypothyroidism.
J. Mol Endocrinol 32(3):903-20.
Hishinuma, A., Ohmika, N., Namatame, T., and Ieiri, T. (2004)
TTF-2 stimulates expression of 17 genes, including one novel thyroid-specific gene which might be involved in thyroid development.
Mol Cell Endocrinol 221(1-2):33-46.
Nishiyama, S., Mikeda, T., Okada, T., Nakamura, K., Kotani, T., and Hishinuma, A. (2004)
Transient hypothyroidism or persistent hyperthyrotropinemia in neonates born to mothers with excessive iodine intake.
Thyroid 14(12):1077-83.
Shibayama, K., Ohyama, Y., Hishinuma, A., Yokota, Y., Kazahari, K., Kazahari, M., Ieiri, T., Matsuura, N. (2005)
Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.
Pediatr Int. 47(1):105-8.
Hishinuma, A., Fukata, S., Kakudo, K., Murata, Y., Ieiri, T. (2005)
High Incidence of Thyroid Cancer in Long-standing Goiters with Thyroglobulin Mutations.
Thyroid 15(9):1079-1084
Kitanaka, S., Takeda, A., Sato, U., Miki, Y., Hishinuma, A., Ieiri, T., Igarashi, T. (2006)
A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels.
J Hum Genet 51(4):379-382.
DOI: 10.1007/s10038-006-0360-2
Hishinuma, A., Fukata, S., Nishiyama, S., Nishi, Y., Oh-Ishi, M., Murata, Y., Ohyama, Y., Matsuura, N., Kasai, K., Harada, S., Kitanaka, S., Takamatsu, J., Kiwaki, K., Ohye, H., Uruno, T., Tomoda, C., Tajima, T., Kuma, K., Miyauchi, A., and Ieiri, T. (2006)
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
J Clin Endocrinol Metab 91(8):3100-3104.
DOI:10.1210/jc.2005-2702
Nishihara, E., Fukata, S., Hishinuma, A., Kudo, T., Ohye, H., Ito, M., Kubota, S., Amino, N., Kuma, K., Miyauchi, A. (2006)
Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu512Gln) in a Japanese patient.
Endocrine J. 53(6):735-740.
DOI:10.1507/endocrj.K06-090
Hishinuma, A., Fukata, S., and Ieiri, T. (2007)
Emerging new features of patients with thyroglobulin mutations, including increased incidence of thyroid cancer.
Hot Thyroidology (European Thyroid Association) August, No2:1-10
Kanou Y, Hishinuma A, Tsunekawa K, Seki K, Mizuno Y, Fujisawa H, Imai T, Miura Y, Nagasaka T, Yamada C, Ieiri T, Murakami M, Murata Y. (2007)
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
J Clin Endocrinol Metab 92(4):1451-1457.
DOI: 10.1210/jc.2006-1242
Fukata, S., Hishinuma A., Kuma, K., Miyauchi, A., Sugawara, M (2007)
Letter to the Editor
Endemic goiter due to thyroglobulin gene abnormality and social ostracism.
Endocrine J. 54(3):485-486.
Nishihara, E., Nagayama, Y., Amino, N., Hishinuma, A., Takano, T., Yoshida, H., Kubota, S., Fukata, S., Kuma, K., Miyauchi, A. (2007)
A Novel Thyrotropin Receptor Germline Mutation (Asp617Tyr) Causing Hereditary Hyperthyroidism.
Endocrine J. 54 (6):927-934.
DOI:10.1507/endocrj.K07-088
Ohye, H., Fukata, S., Hishinuma, A., Kudo, T., Nishihara, E., Ito, M., Kubota, S., Amino, N., Ieiri, T., Kuma, K., Miyauchi, A. (2008)
A Novel Homozygous Missense Mutation of the Dual Oxidase 2 (DUOX2) Gene in an Adult Patient with Large Goiter.
Thyroid 10(5): 561-566.
DOI: 10.1089/thy.2007.0258
Fukata S、Hishinuma A、Nakatake N、 Tajiri J. (2010)
Diagnosis of Iodide Transport Defect: Do We Need to Measure the Saliva/Serum Radioactive Iodide Ratio to Diagnose Iodide Transport Defect?
Thyroid 20(12): 1419-1421.
DOI: 10.1089/thy.2010.0069
Chihara S、Okuzumi K、Yamamoto Y、Oikawa S、Hishinuma A. (2011)
First Case of New Delhi Metallo-β-Lactamase 1 (NDM-1) Producing Escherichia coli Infection in Japan.
Clin Infect Dis 52(1): 153-154.
DOI: 10.1093/cid/ciq054
Yamamoto T, Takano T, Iwao Y, Hishinuma A. (2011)
Emergence of NDM-1-positive capsulated Escherichia coli with high resistance to serum killing in Japan.
J Infect Chemother 17: 435-439.
DOI: 10.1007/s10156-011-0232-3
Sekizuka T, Matsui M, Yamane K, Takeuchi F, Ohnishi M, Hishinuma A, Arakawa Y, Kuroda M. (2011)
Complete sequencing of the blaNDM-1-positive plasmid from Escherichia coli ST38 type isolate reveals a novel composite transposon in IncA/C plasmid and suggests a possible origination of blaNDM-1 from plant pathogenic bacteria.
PLOS ONE. 6(9): e25334
DOI: 10.1371/journal.pone.0025334
Kahara T, Igarashi N, Hishinuma A, Nakanishi Y, Uchiyama A, Miwa A, Ishizawa S, Yamamoto Y, Noto H, Sumiya H,,Ishikura K, Usuda R, Iida H. (2012)
Thyroglobulin gene mutation with cold nodule on thyroid scintigraphy.
Case Reports in Endocrinology
Volume 2012, Article ID 280319
DOI:10.1155/2012/280319
Fukata S, Hishinuma A, Nakatake N, Tajiri J. (2012)
A Japanese Family with Familial Nonautoimmune Hyperthyroidism with a Novel Mutation (Asn406Ser) in Extracellular Domain of Thyrotropin Receptor.
Clin Endocrinol 77:329-330
DOI: 10.1111/j.1365-2265.2011.04324.x.
Sakurai K, Hata M, Hishinuma A, Ushijima R, Okada A, Taeda Y, Arihara Z, Fukazawa H, Takahashi K. (2013)
Papillary thyroid carcinoma in one of identical twin patients with Pendred syndrome.
Endocrine J. 60(6):805-811.
DOI: 10.1507/endocrj. EJ12-0396
Fujisaki M, Sadamoto S, Hishinuma A. (2013)
Evaluation of the double-disk synergy test for New Delhi metallo-β-lactamase-1 and other metallo-β-lactamase producing gram-negative bacteria by using metal-ethylenediaminetetraacetic acid complexes.
Microbiol Immunol. 57(5):346-352.
DOI: 10.1111/j.1348-0421.12042
Hishinuma A, Yoshida A, Suzuki H, Okuzumi K, Ishida T. (2013)
Complete sequencing of an IncFII NDM-1 plasmid in Klebsiella pneumoniae shows structural features
shared with other multidrug-resistant plasmids.
J Antimicrob Chemother 68(10):2415-2417.
DOI:10.1093/jac/dkt190
Hagiwara S, Yoshida A, Omata Y, Tsukada Y, Takahashi H, Kamewada H, Koike S,
Okuzumi K, Hishinuma A, Kobayashi K, Nakano M. (2013)
Desulfovibrio desulfuricans bacteremia in a patient hospitalized with acute cerebral infarction:
Case report and review.
J Infect Chemother. 20(4):274-277.
DOI: 10.1016/j.jiac.2013.10.009.
Nishihara E, Fukata S, Hishinuma A, Amino N, Miyauchi A. (2014)
Prevalence of Thyrotropin Receptor Germline Mutations and Clinical Courses in 89 Hyperthyroid Patients with Diffuse Goiter and Negative Anti-Thyrotropin Receptor Antibodies.
Thyroid 24(5):789-795.
DOI: 10.1089/thy.2013.0431
Satou M, Nishi Y, Hishinuma A, Hosoda H, Kangawa K, Sugimoto H (2015)
Identification of activated protein C as a ghrelin endopeptidase in bovine plasma.
J Enodocrinol. 224(1):61-73.
DOI: 10.1530/JOE-14-0529
Toyoda S, Tajima E, Fukuda R, Masawa T, Inami S, Amano H, Arikawa T, Yoshida A, Hishinuma A, Inoue T (2015)
Early surgical intervention and optimal medical treatment for Candida parapsilosis endocarditis.
Intern Med 54: 411-413, 2015.
Taki K, Kogai T, Sakumoto J, Namatame T, Hishinuma A (2015)
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor.
Endocrinology, Diabetes and Metabolism 15-0016, 2015.
DOI: 10.1530/EDM-15-0016
Suzuki H, Yoshida S, Yoshida A, Okuzumi K, Fukusima A, Hishinuma A (2015)
A novel cluster of Mycobacterium abscessus complex revealed by matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS)
Diagn Microbiol Infect Dis 83:365-370, 2015
DOI: 10.1016/j.diagmicrobio.2015.08.011.
Mizokami T, Hishinuma A, Kogai T, Hamada K, MarutaT, HigashiK, Tajiri J (2016)
Graves’ disease and Gitelman syndrome
Clin Endo 84:149-150.
DOI: 10.1111/cen.12829
Mizokami T, Fukata S, Hishinuma A, Kogai T, Hamada K, Maruta T, Higashi K, Tajiri J (2016)
Iodide transport defect and breast milk iodine
Eur Thyroid J 5:145–148
DOI: 10.1159/000446496
Kimura M, Araoka H, Yoshida A, Yamamoto H, Abe M, Okamoto Y, Yuasa M, Kaji D, Kageyama K, Nishida A, Ishiwata K, Takagi S, Yamamoto G, Asano-Mori Y, Uchida N, Hishinuma A, Izutsu K, Wake A, Taniguchi S, Yoneyama A (2016)
Breakthrough viridans streptococcal bacteremia in allogeneic hematopoietic stem cell transplant recipients receiving levofloxacin prophylaxis in a Japanese hospital
BMC Infectious Diseases 16:372
DOI: 10.1186/s12879-016-1692-y
Nishihara E, Hishinuma A, Kogai T, TakadaN, Hirokawa M, Fukata S, Ito M, Yabuta T, Nishikawa M, Nakamura H, Amino N, Miyauchi A (2016)
A Novel Germline Mutation of KEAP1 (R483H) Associated with a Non-Toxic Multinodular Goiter
Front Endocrinol 7:Article 131
DOI: 10.3389/fendo.2016.00131
Thienpont LM, Van Uytfanghe K, De Grande LC, Reynders D, Das B, Faix JD, MacKenzie F, Patru M-M, Rottmann M, Decallonne B, Hishinuma A, Lapauw B, Taelman P, Van Crombrugge P, Van den Bruel A, Velkeniers B, Williams P, on behalf for the IFCC Committee for Standardization of Thyroid Function Tests (C-STFT) (2017)
Harmonization of serum thyroid-stimulating hormone measurements paves the way for the adoption of a more uniform reference interval
Clin Chem 63(7): 1248-1260.
DOI:10.1373/clinchem.2016.269456
De Grande LC, Van Uytfanghe K, Reynders D, Das B, Faix JD, MacKenzie F, Decallonne B, Hishinuma A, Lapauw B, Taelman P, Van Crombrugge P, Van den Bruel A, Velkeniers B, Williams P, Thienpont LM, on behalf for the IFCC Committee for Standardization of Thyroid Function Tests (C-STFT) (2017)
Standardization of free thyroxine measurements allows the adoption of a more uniform reference interval
Clin Chem 63(10):1642-1652.
DOI:10.1373/clinchem.2017.274407
Nyuzuki H, Kogai T, Hishinuma A, Ogawa Y, Saitoh A, Nagasaki K (2017)
PTEN mutation in a Japanese boy with autonomously functioning thyroid nodule.
Pediatrics International 59: 1223–1224.
DOI: 10.1111/ped.13427
Yoshihara A, Yoshimura NJ, Watanabe N, Iwaku K, Kunii Y, Ohye H, Suzuki M, Matsumoto M, Suzuki N, Sugino K, Thienpont LM, Hishinuma A, Ito K (2018)
Seasonal Changes in Serum Thyrotropin Concentrations Observed from Big Data Obtained During Six Consecutive Years from 2010 to 2015 at a Single Hospital in Japan
Thyroid 28(4): 429-436.
DOI.org/10.1089/thy.2017.0600
Mizokami T, Fukata S, Kogai T, Hishinuma A, Hamada K, Maruta T, Higashi K, Tajiri J (2019)
Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.
Internal Medicine
DOI: 10.2169/internalmedicine.1163-18
Nagamine T, Yoshimura JN, Emoto N, Kogai K, Hishinuma A, Okajima F, Sugihara H(2019)
Painless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report..
Thyroid Res 12:8
Okazaki Y, Arata N, Umehara N, Yamauchi T, Tajiri J, Hishinuma A, Kogai T, Idegami T, Murashima A, Sago H (2020)
A Case of Familial Nonautoimmune Hyperthyroidism During Pregnancy
AACE Clinical Case Reports 6 (2) e94-e97.
DOI: https://journals.aace.com/doi/...
Kishi H, Jojima T, Kogai T, Iijima T, Ohira E, Tanuma D, Konno S, Kato K, Kezuka A, Akimoto K, Sakumoto J, Hishinuma A, Tomaru T, Makita N, Usui U, Aso Y (2020)
A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation.
Clinical Case Reports 00: 1-6.
DOI: 10.1002/ccr3.3186
Department of Infection Control and Clinical Laboratory Medicine
Dokkyo Medical University
Kitakobayashi 880, Mibu, Shimotsuga, Tochigi, 321-0293 Japan
TEL: 81-282-87-2139
FAX: 81-282-86-6212
a-hishi@dokkyomed.ac.jp
See more details : https://dept.dokkyomed.ac.jp/dep-m/icclm/ (in Japanese)