Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

Congenital central hypothyroidism occurs either in isolation or in conjunction with other pituitary hormone deficits. Using exome and candidate gene sequencing, we identified eight distinct mutations and two deletions in IGSF1 in males from eleven unrelated families with central hypothyroidism, test...

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Main Authors: Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511587/
https://ncbi.nlm.nih.gov/pubmed/23143598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2453
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