ロード中...
Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2...
保存先:
| 出版年: | Intractable Rare Dis Res |
|---|---|
| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2017
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5359361/ https://ncbi.nlm.nih.gov/pubmed/28357189 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01084 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|