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...

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Publicado no:Clin Endocrinol (Oxf)
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Original Articles
Acesso em linha: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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