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| Title : Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis - Malki_2020_Genet.Med__ |
| Author(s) : Malki L , Sarig O , Cesarato N , Mohamad J , Canter T , Assaf S , Pavlovsky M , Vodo D , Anis Y , Bihari O , Malovitski K , Gat A , Thiele H , White BEP , Samuelov L , Nanda A , Paller AS , Betz RC , Sprecher E |
| Ref : Genet Med , : , 2020 |
| Abstract : Malki_2020_Genet.Med__ |
| ESTHER : Malki_2020_Genet.Med__ |
| PubMedSearch : Malki_2020_Genet.Med__ |
| PubMedID: 32336749 |
| Title : An exceptional mutational event leading to Chanarin-Dorfman syndrome in a large consanguineous family - Samuelov_2011_Br.J.Dermatol_164_1390 |
| Author(s) : Samuelov L , Fuchs-Telem D , Sarig O , Sprecher E |
| Ref : Br J Dermatol , 164 :1390 , 2011 |
| Abstract : Samuelov_2011_Br.J.Dermatol_164_1390 |
| ESTHER : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedSearch : Samuelov_2011_Br.J.Dermatol_164_1390 |
| PubMedID: 21332462 |
| Gene_locus related to this paper: human-ABHD5 |