Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.
Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.
Ikegawa S, et al.
Am J Med Genet. 2000 Oct 2;94(4):300-5. doi: 10.1002/1096-8628(20001002)94:4<300::aid-ajmg7>3.0.co;2-3.
Am J Med Genet. 2000.
PMID: 11038443
Review.
A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hunermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. The cause of …
A subtype of CDP, X-linked dominant chondrodysplasia punctata (CDPX2), known also as Conradi-Hunermann-Happle syndrome, is a rare skeletal d …