Mutations in IRS4 are associated with central hypothyroidism

BACKGROUND: Four genetic causes of isolated congenital central hypothyroidism (CeH) have been identified, but many cases remain unexplained. We hypothesised the existence of other genetic causes of CeH with a Mendelian inheritance pattern. METHODS: We performed exome sequencing in two families with...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Med Genet
Prif Awduron: Heinen, Charlotte A, de Vries, Emmely M, Alders, Mariëlle, Bikker, Hennie, Zwaveling-Soonawala, Nitash, van den Akker, Erica L T, Bakker, Boudewijn, Hoorweg-Nijman, Gera, Roelfsema, Ferdinand, Hennekam, Raoul C, Boelen, Anita, van Trotsenburg, A S Paul, Fliers, Eric
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BMJ Publishing Group 2018
Pynciau:
Genotype-Phenotype Correlations
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6161650/
https://ncbi.nlm.nih.gov/pubmed/30061370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2017-105113
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