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Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.

Authors
  • McCabe, Mark J1
  • 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
  • 1 Clinical and Molecular Genetics Unit, University College London—Institute of Child Health, London WC1N 1EH, United Kingdom. , (United Kingdom)
Type
Published Article
Journal
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Publication Date
October 2011
Volume
96
Issue
10
Identifiers
DOI: 10.1210/jc.2011-0454
PMID: 21832120
Source
Medline
License
Unknown

Abstract

We implicate FGF8 in the etiology of recessive HPE and potentially septo-optic dysplasia/Moebius syndrome for the first time to our knowledge. Furthermore, FGF8 is important for the development of the ventral diencephalon, hypothalamus, and pituitary.

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