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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282842/
https://www.ncbi.nlm.nih.gov/pubmed/30086211
http://dx.doi.org/10.1111/cen.13827

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282842/
https://www.ncbi.nlm.nih.gov/pubmed/30086211
http://dx.doi.org/10.1111/cen.13827

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