Condition: CRANIOSYNOSTOSIS, TYPE 2
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.