A further Turkish case of Griscelli syndrome with new RAB27A mutation

Journal of the American Academy of Dermatology

Volumn 58, Issue 5 SUPPL. 1, 2008, Pages

  Onay, Huseyin ^a   Balkan, Can ^a   Cogulu, Ozgur ^a   Aydinok, Yesim ^a   Karapinar, Deniz Yilmaz ^a   Ozkinay, Ferda ^a  

^a EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

RAB27A PROTEIN;

ANTHROPOMETRY; ARTICLE; CASE REPORT; CLINICAL FEATURE; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GRISCELLI SYNDROME; HOMOZYGOSITY; HOSPITAL MANAGEMENT; HUMAN; INFANT; LABORATORY TEST; MALE; MICROSCOPY; PATIENT REFERRAL; PHYSICAL EXAMINATION; PRIORITY JOURNAL; TURKEY (REPUBLIC);

ALBINISM; GENES, RECESSIVE; HEPATOMEGALY; HUMANS; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; RAB GTP-BINDING PROTEINS; SPLENOMEGALY; SYNDROME; TURKEY;

EID: 41849144073     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2007.05.002     Document Type: Article

References (5)

1. Griscelli C., Durandy A., Guy-Grand D., Daguillard F., Herzog C., and Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med 65 (1978) 691-702
2. Kurugol Z., Ozkinay F., Vardar F., Karacali S., Kutukculer N., Deveci R., et al. Griscelli syndrome: report of a case and review of the literature. Pediatr Int 43 (2001) 298-301
3. Pastural E., Ersoy F., Yalman N., Wulffraat N., Grillo E., Ozkinay F., et al. Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 63 (2000) 299-306
4. Malhotra A.K., Bhaskar G., Nanda M., Kabra M., Singh M.K., and Ramam M. Griscelli syndrome. J Am Acad Dermatol 55 (2006) 337-340
5. Sarper N., Ipek I.O., Ceran O., Karaman S., Bozaykut A., and Inan S. A rare syndrome in the differential diagnosis of hepatosplenomegaly and pancytopenia: report of identical twins with Griscelli disease. Ann Trop Paediatr 23 (2003) 69-73