Condition: Pallister-Hall syndrome


rs1057520063 in GLI3 gene and Pallister-Hall syndrome PMID 24736735 2015 New insights into genotype-phenotype correlation for GLI3 mutations.

PMID 26508445 2016 GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 27231705 2016 Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.

PMID 15739154 2005 Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

PMID 10441570 1999 The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.