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Article

Molecular analysis and clinical findings of Griscelli syndrome patients.

Journal of pediatric hematology/oncology - 1 Oct 2012

Durmaz Asude, Ozkinay Ferda, Onay Huseyin, Tombuloglu Murat, Atay Avni, Gursel Orhan, Peker Erdal, Atmaca Murat, Genel Ferah, Bozabali Sibel, Akin Haluk, Ozkinay Cihangir

Abstract excerpt

Griscelli syndrome (GS) is a rare autosomal recessive disorder associated with skin or hair hypopigmentation, hepatosplenomegaly, pancytopenia, and immunologic and central nervous system abnormalities. GS type II is caused by RAB27A mutations. We present RAB27A mutation analysis of 6 cases diagnosed as GS type II. Missense mutations (L26P and L130P) in 2 cases, deletion of 5 bases (514delCAAGC) in 2 cases, and 1...

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PMID: 22983416
DOI: 10.1097/MPH.0b013e31826781ad

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