Title : Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6 - |
Author(s) : Sugiura K , Suga Y , Akiyama M |
Ref : J Dermatol Sci , 75 :199 , 2014 |
PubMedID: 24996587 |
Gene_locus related to this paper: human-ABHD5 |
Gene_locus related to this paper: human-ABHD5 |
Sugiura K, Suga Y, Akiyama M (2014)
Dorfman-Chanarin syndrome without mental retardation caused by a homozygous ABHD5 splice site mutation that skips exon 6
J Dermatol Sci
75 :199
Sugiura K, Suga Y, Akiyama M (2014)
J Dermatol Sci
75 :199