Title : Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene - Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
Author(s) :
Redaelli C , Coleman RA , Moro L , Dacou-Voutetakis C , Elsayed SM , Prati D , Colli A , Mela D , Colombo R , Tavian D |
Ref :
Orphanet J Rare Dis , 5 :33 , 2010 |
Abstract : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
ESTHER : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
PubMedSearch : Redaelli_2010_Orphanet.J.Rare.Dis_5_33 |
PubMedID: 21122093 |
Gene_locus related to this paper:
human-ABHD5 |