Variant: rs267606653 

    present in Gene: ALX4
    present in Chromosome: 11
    Position on Chromosome: 44267607
    Alleles of this Variant: G/A

rs267606653 in ALX4 gene and Dysmorphic features PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

rs267606653 in ALX4 gene and Multiple congenital anomalies PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).