Condition: EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
rs1057517277 in
ADAMTS2 gene and
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE
PMID 23495203 2013 Dermatosparaxis (Ehlers-Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery.
PMID 8215497 1993 Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
PMID 8986271 1997 Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
PMID 7735500 1995 The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC).
PMID 18973246 2008 Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.
PMID 1642226 1992 Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
PMID 10417273 1999 Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
PMID 15389701 2004 The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC).