Condition: HOLOPROSENCEPHALY 5


rs756225250 in ZIC2 gene and HOLOPROSENCEPHALY 5 PMID 15590697 2005 In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation.

PMID 11285244 2001 Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

PMID 19955556 2010 Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

PMID 9771712 1998 Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.

PMID 19177455 2009 The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.