Loss-of-function mutations in the immunoglobulin...

The Lancet 2013 / 02 Vol. 381

Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Schoenmakers, N, Sun, Y, Bak, B, van Trotsenburg, ASP, Oostdijk, W, Voshol, P, Cambridge, E, White, JK, le Tissier, P, Gharavy, SNM, Martinez-Barbera, JP, Stokvis-Brantsma, WH, Vulsma, T, Kempers, MJ,
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Volume:
381
Language:
english
Journal:
The Lancet
DOI:
10.1016/S0140-6736(13)60455-9
Date:
February, 2013
File:
PDF, 48 KB
english, 2013
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