Associated Papers
Loss-of-function mutations in FGF8 can be independent risk factors for holoprosencephaly.
Hong S et al.
Human Molecular Genetics, 2018
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
Castinetti F et al.
European Journal of Endocrinology, 2016
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies.
Zeidler C et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
McCabe MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Select a paper to view details