Title : Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5 - |
Author(s) : Badeloe S , van Geel M , Nagtzaam I , Rubio-Gozalbo ME , Oei RL , Steijlen PM , van Steensel MA |
Ref : Br J Dermatol , 158 :1378 , 2008 |
PubMedID: 18410411 |
Gene_locus related to this paper: human-ABHD5 |