Publications:

Mutations in IRS4 are associated with central hypothyroidism.

Journal Of Medical Genetics

Heinen, Charlotte A CA; de Vries, Emmely M EM; Alders, Mariëlle M; Bikker, Hennie H; Zwaveling-Soonawala, Nitash N; van den Akker, Erica L T ELT; Bakker, Boudewijn B; Hoorweg-Nijman, Gera G; Roelfsema, Ferdinand F; Hennekam, Raoul C RC; Boelen, Anita A; van Trotsenburg, A S Paul ASP; Fliers, Eric E

Publication Date: 2018-10

Variant appearance in text: PI3K: 3161_3165del

PubMed Link: 30061370

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105113.pdf

View BVdb publication page