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 | Zendy

Gabor Szinnai | Zendy; Shinji Kosugi | Zendy; C. Derrien | Zendy; Nadine Lucidarme | Zendy; Véronique David | Zendy; Paul Czernichow | Zendy; Michel Polak | Zendy

Open Access

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

Author(s) -

Gabor Szinnai,

Shinji Kosugi,

C. Derrien,

Nadine Lucidarme,

Véronique David,

Paul Czernichow,

Michel Polak

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-1832

Subject(s) - sodium iodide symporter , genotype , symporter , congenital hypothyroidism , endocrinology , medicine , newborn screening , thyroid , mutation , iodide , genotype phenotype distinction , goiter , chemistry , microbiology and biotechnology , biology , gene , biochemistry , pediatrics , transporter , organic chemistry

Iodide transport defect (ITD) is an autosomal recessive disorder resulting in varying degrees of congenital hypothyroidism (CH) with goiter and low or absent radioiodide uptake (RIUT), as determined by thyroid scintigraphy, and low iodide saliva to plasma ratio. Defects of the sodium/iodide symporter gene (NIS) have been shown to cause ITD.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research