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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 |
Title : Dorfman-Chanarin syndrome in Egypt - |
Author(s) : EI-Kabbany Z , Elsayed SM , Rashad M , Tareef R , Galal N |
Ref : American Journal of Medicine Genet A , 121A :75 , 2003 |
PubMedID: 12900907 |
Gene_locus related to this paper: human-ABHD5 |