A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

OBJECTIVE: Loss‐of‐function mutations in IGSF1 result in X‐linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and a minority of heterozygous females are also affected. We identi...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Clin Endocrinol (Oxf)
Prif Awduron: Roche, Edna F., McGowan, Anne, Koulouri, Olympia, Turgeon, Marc‐Olivier, Nicholas, Adeline K., Heffernan, Emmeline, El‐Khairi, Ranna, Abid, Noina, Lyons, Greta, Halsall, David, Bonomi, Marco, Persani, Luca, Dattani, Mehul T., Gurnell, Mark, Bernard, Daniel J., Schoenmakers, Nadia
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Original Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6282842/
https://ncbi.nlm.nih.gov/pubmed/30086211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cen.13827
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