Article
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
The Journal of clinical endocrinology and metabolism - 1 Oct 2011
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
Abstract excerpt
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 is unknown. OBJECTIVE: The objective of this study was to screen for FGF8 mutations in patients with septo-optic...
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