title: Further evidence for genotype-phenotype disparity in Griscelli syndrome.
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.
authors.forename: J Y W
authors.initials: JYW
authors.lastname: Lee
authors.affiliation: Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
authors.forename: M S
authors.initials: MS
authors.lastname: Eldeeb
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.|Department of Dermatology, College of Medicine, National Cheng Kung University, Tainan, Taiwan.|Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: C-K
authors.initials: CK
authors.lastname: Hsu
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.|Department of Dermatology, Hiroshima University, Hiroshima, Japan.
authors.forename: R
authors.initials: R
authors.lastname: Saito
authors.affiliation: Department of Dermatology, Venereology and Andrology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
authors.forename: S A
authors.initials: SA
authors.lastname: Abouzeid
authors.affiliation: St John's Institute of Dermatology, King's College London, London, U.K.
authors.forename: J A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016116:Piebaldism / Q000175:diagnosis / Q000235:genetics*; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D000081207:Primary Immunodeficiency Diseases; D022821:RNA Splice Sites / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human