present in Gene: GLI2
present in Chromosome: 2
Position on Chromosome: 120951309
Alleles of this Variant: G/-
rs1553471273 in
GLI2 gene and
Muscle hypotonia
PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.
PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.