title: Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.
authors.affiliation: Division of Pediatric Allergy and Immunology, Cukurova University, Adana, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Yılmaz
authors.forename: Deniz
authors.initials: D
authors.lastname: Çağdaş
authors.forename: Virginie
authors.initials: V
authors.lastname: Grandin
authors.forename: Derya Ufuk
authors.initials: DU
authors.lastname: Altıntaş
authors.forename: İlhan
authors.initials: İ
authors.lastname: Tezcan
authors.forename: Geneviève
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: Özden
authors.initials: Ö
authors.lastname: Sanal
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005512:Food Hypersensitivity / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D018995:Myosin Heavy Chains / Q000235:genetics*; D024701:Myosin Type V / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000175:diagnosis* / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D014421:Turkey; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C492410:MLPH protein, human; D000075745:rab27 GTP-Binding Proteins; C077511:MYO5A protein, human; D024701:Myosin Type V; C066694:RAB27A protein, human; D018995:Myosin Heavy Chains; D020691:rab GTP-Binding Proteins
keywords: F-exon; Griscelli syndrome; MYO5A