Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

CONTEXT: Fibroblast growth factor (FGF) 8 is important for GnRH neuronal development with human mutations resulting in Kallmann syndrome. Murine data suggest a role for Fgf8 in hypothalamo-pituitary development; however, its role in the etiology of wider hypothalamo-pituitary dysfunction in humans i...

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Autores principales: McCabe, Mark J., Gaston-Massuet, Carles, Tziaferi, Vaitsa, Gregory, Louise C., Alatzoglou, Kyriaki S., Signore, Massimo, Puelles, Eduardo, Gerrelli, Dianne, Farooqi, I. Sadaf, Raza, Jamal, Walker, Joanna, Kavanaugh, Scott I., Tsai, Pei-San, Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2011
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3417283/
https://ncbi.nlm.nih.gov/pubmed/21832120
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-0454
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