Entry
Name
Type
Loss of function
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
H00251 Thyroid dyshormonogenesis
Reference
Authors
Matsuda A, Kosugi S
Title
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
Journal
Reference
Authors
Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S
Title
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
Journal
Reference
Authors
Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S
Title
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
Journal
Reference
Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Journal
Reference
Authors
Vono-Toniolo J, Kopp P
Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Journal
Reference
Authors
Dohan O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N
Title
The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance.
Journal
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