Variant: rs104893895

present in Gene: MSX2 present in Chromosome: 5 Position on Chromosome: 174729222 Alleles of this Variant: C/A;T

rs104893895 in MSX2 gene and CRANIOSYNOSTOSIS, TYPE 2 PMID 23918290 2013 Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

PMID 8106171 1993 A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.

PMID 23949913 2013 Boston type craniosynostosis: report of a second mutation in MSX2.