title: An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
authors.forename: O
authors.initials: O
authors.lastname: Sanal
authors.forename: L
authors.initials: L
authors.lastname: Yel
authors.forename: T
authors.initials: T
authors.lastname: Kucukali
authors.forename: E
authors.initials: E
authors.lastname: Gilbert-Barnes
authors.forename: M
authors.initials: M
authors.lastname: Tardieu
authors.forename: I
authors.initials: I
authors.lastname: Texcan
authors.forename: F
authors.initials: F
authors.lastname: Ersoy
authors.forename: A
authors.initials: A
authors.lastname: Metin
authors.forename: G
authors.initials: G
authors.lastname: de Saint Basile
mesh_terms: D002648:Child; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017496:Hypopigmentation / Q000235:genetics* / Q000503:physiopathology; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D020460:Melanosomes / Q000473:pathology*; D019957:Motor Skills Disorders / Q000235:genetics* / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000235:genetics* / Q000503:physiopathology; D009218:Myosins / Q000235:genetics; D013577:Syndrome
chemical_list: D018389:Codon, Nonsense; D009218:Myosins