Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD-Reference-Cited by-同舟云学术

Extending the Clinical Heterogeneity of Iodide Transport Defect (ITD): A Novel Mutation R124H of the Sodium/Iodide Symporter Gene and Review of Genotype-Phenotype Correlations in ITD

Published:2006-04-01 Issue:4 Volume:91 Page:1199-1204
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Szinnai Gabor¹,Kosugi Shinji²,Derrien Christèle³,Lucidarme Nadine⁴,David Véronique³,Czernichow Paul⁴,Polak Michel¹

Affiliation:

1. Pediatric Endocrine Unit, and Institut National de la Santé et de la Recherche Médicale, Equipe mixte INSERM 0363, Hôpital Necker Enfants-Malades (G.S., M.P.), 75743 Paris, France

2. Departments of Clinical Genetics and Medical Ethics, Kyoto University Graduate School of Medicine (S.K.), Kyoto 606-8501, Japan

3. Department of Endocrinology and Diabetes, Molecular Laboratory, Centre Hospitalier Universitaire (C.D., V.D.), 35043 Rennes, France

4. Pediatric Endocrine and Diabetes Unit, Hôpital Robert Debré (N.L., P.C.), 75019 Paris, France

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/91/4/1199/10779164/jcem1199.pdf

Reference26 articles.

1. Congenital hypothyroidism with goiter: absence of an iodide-concentrating mechanism.;Stanbury;Lancet,1960

2. Congenital goiterous cretinism due to the absence of iodide-concentrating ability.;Wolff;J Clin Endocrinol Metab,1964

3. Congenital hypothyroidism caused by a mutation in the Na+/I− symporter.;Fujiwara;Nat Genet,1997

4. A homozygous missense mutation of sodium/iodide symporter gene causing iodide transport defect.;Matsuda;J Clin Endocrinol Metab,1997

5. Congenital goiter with defective iodide transport.;Wolff;Endocr Rev,1983

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