present in Gene: ALX4
present in Chromosome: 11
Position on Chromosome: 44275472
Alleles of this Variant: C/T
rs104894193 in
ALX4 gene and
PARIETAL FORAMINA 2
PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).
PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.