Chondrodysplasia Punctata 2
Search For A Disorder
References
Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V. Two novel EBP mutations in Conradi-H?onermann-Happle syndrome. Eur J Dermatol. 2008 Jul-Aug;18(4):391-3.
PubMedID: 18573709
Kalter DC, Atherton DJ, Clayton PT. X-linked dominant Conradi-H?onermann syndrome presenting as congenital erythroderma. J Am Acad Dermatol. 1989 Aug;21(2 Pt 1):248-56.
PubMedID: 2527874
Happle R. X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet. 1979;53(1):65-73.
PubMedID: 535904