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| Title : Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5\/CGI-58 gene - Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| Author(s) : Srinivasaraghavan R , Krishnamurthy S , Chandar R , Cassandrini D , Mahadevan S , Bruno C , Santorelli FM |
| Ref : Pediatr Dermatol , 31 :612 , 2014 |
| Abstract : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| ESTHER : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedSearch : Srinivasaraghavan_2014_Pediatr.Dermatol_31_612 |
| PubMedID: 23756328 |
| Gene_locus related to this paper: human-ABHD5 |
| Title : Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? - Szafranski_2010_Hum.Mutat_31_840 |
| Author(s) : Szafranski P , Schaaf CP , Person RE , Gibson IB , Xia Z , Mahadevan S , Wiszniewska J , Bacino CA , Lalani S , Potocki L , Kang SH , Patel A , Cheung SW , Probst FJ , Graham BH , Shinawi M , Beaudet AL , Stankiewicz P |
| Ref : Hum Mutat , 31 :840 , 2010 |
| Abstract : Szafranski_2010_Hum.Mutat_31_840 |
| ESTHER : Szafranski_2010_Hum.Mutat_31_840 |
| PubMedSearch : Szafranski_2010_Hum.Mutat_31_840 |
| PubMedID: 20506139 |