Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: Expanding the phenotypic spectrum of Rab27A mutations in humans

American Journal of Medical Genetics

Volumn 116 A, Issue 4, 2003, Pages 329-333

  Aksu, Güzide ^a,c   Kutukuculer, Necil ^a   Genel, Ferah ^a   Vergin, Canan ^b   Omowaire, Benjamin ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b Behcet Uz Children's Hospital   (Turkey)

^c UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

15q21; Elejalde syndrome; Griscelli syndrome; MYOVA; PAID syndrome; Rab27A; Slac2 a melanophylin

Indexed keywords

GROWTH FACTOR; IMMUNOGLOBULIN; RAB PROTEIN; RAB27A PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CYTOPENIA; FEMALE; GENE; GENE DELETION; GRISCELLI SYNDROME; HAIR ANALYSIS; HUMAN; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; RAB27A GENE; SPLENOMEGALY; SYNDROME DELINEATION; CONSANGUINITY; GENETICS; HEPATOMEGALY; HYPOPIGMENTATION; IMMUNE DEFICIENCY; PATHOLOGY; SYNDROME;

CHILD; CONSANGUINITY; FEMALE; HEPATOMEGALY; HUMANS; HYPOPIGMENTATION; IMMUNOLOGIC DEFICIENCY SYNDROMES; PHENOTYPE; RAB GTP-BINDING PROTEINS; SPLENOMEGALY; SYNDROME;

EID: 0041324931     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10836     Document Type: Article

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