NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction | Zendy

Mark J. McCabe | Zendy; Carles GastonMassuet | Zendy; Vaitsa Tziaferi | Zendy; Louise Gregory | Zendy; Kyriaki S. Alatzoglou | Zendy; Massimo Signore | Zendy; Eduardo Puelles | Zendy; Dianne Gerrelli | Zendy; I. Sadaf Farooqi | Zendy; Jamal Raza | Zendy; Joanna Walker | Zendy; Scott I. Kavanaugh | Zendy; PeiSan Tsai | Zendy; Nelly Pitteloud | Zendy; Juan Pedro Martı́nez-Barberá | Zendy; Mehul Dattani | Zendy

Open Access

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

Author(s) -

Mark J. McCabe,

Carles GastonMassuet,

Vaitsa Tziaferi,

Louise Gregory,

Kyriaki S. Alatzoglou,

Massimo Signore,

Eduardo Puelles,

Dianne Gerrelli,

I. Sadaf Farooqi,

Jamal Raza,

Joanna Walker,

Scott I. Kavanaugh,

PeiSan Tsai,

Nelly Pitteloud,

Juan Pedro Martı́nez-Barberá,

Mehul Dattani

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-0454

Subject(s) - holoprosencephaly , fgf8 , context (archaeology) , craniofacial , kallmann syndrome , fibroblast growth factor , biology , short stature , endocrinology , fibroblast growth factor receptor 1 , etiology , medicine , hypogonadotropic hypogonadism , genetics , pregnancy , hormone , fetus , disease , receptor , paleontology , covid-19 , infectious disease (medical specialty)

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.

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