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RISS 인기검색어
- 검색키워드
- 저자 : Kirtisudha Mishra (검색결과 2 건)
- 무료
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- 유료
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Mishra, Kirtisudha,Singla, Shilpy,Sharma, Suvasini,Saxena, Renu,Batra, Vineeta Vijay The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocytic lymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elder brother presented with a purely neurological picture, whereas the younger one presented with fever, pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentation was a common feature between the brothers, genetic analysis for Griscelli syndrome was performed. As the elder sibling had died, mutation analysis was only performed on the younger sibling, which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing a single-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features of GS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, association with erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
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Kirtisudha Mishra,Shilpy Singla,Suvasini Sharma,Renu Saxena,Vineeta Vijay Batra 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.2
Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in the RAB27Agene. It is characterized by cutaneous hypopigmentation, immunodeficiency, and hemophagocyticlymphohistiocytosis. We describe 2 brothers who had GS2 with clinically diverse manifestations. The elderbrother presented with a purely neurological picture, whereas the younger one presented with fever,pancytopenia, hepatosplenomegaly, and erythema nodosum. Considering that cutaneous hypopigmentationwas a common feature between the brothers, genetic analysis for Griscelli syndrome wasperformed. As the elder sibling had died, mutation analysis was only performed on the younger sibling,which revealed a novel homozygous mutation in the RAB27A gene on chromosome 15 showing asingle-base substitution (c.136T>A p.F46I). Both parents were heterozygous for the same mutation. This confirmed the diagnosis of GS2 in the accelerated phase in both siblings. The atypical features ofGS2 in these cases are a novel mutation, isolated neurological involvement in one sibling, associationwith erythema nodosum, and 2 distinct clinical presentations in siblings with the same genetic mutation.
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