Associated Papers
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
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
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
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.
Trarbach EB et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.
Arauz RF et al.
Molecular Syndromology, 2010
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
Falardeau J et al.
The Journal of Clinical Investigation, 2008
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