Article
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.
The Journal of clinical endocrinology and metabolism - 1 Apr 2006
Szinnai Gabor, Kosugi Shinji, Derrien Christèle, Lucidarme Nadine, David Véronique, Czernichow Paul, Polak Michel
Abstract excerpt
CONTEXT: 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. OBJECTIVE: We describe molecular studies of NIS in a patient...
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