Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)-Reference-Cited by-同舟云学术

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

Published:2003-08-01 Issue:3 Volume:112 Page:450-456
ISSN:0021-9738
Container-title:Journal of Clinical Investigation
language:en
Short-container-title:J. Clin. Invest.

Author:

Ménasché Gaël,Ho Chen Hsuan,Sanal Ozden,Feldmann Jérôme,Tezcan Ilhan,Ersoy Fügen,Houdusse Anne,Fischer Alain,Basile Geneviève de Saint

Publisher

American Society for Clinical Investigation

Subject

General Medicine

Reference33 articles.

1. A syndrome associating partial albinism and immunodeficiency

2. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

3. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

5. Myosin V in the brain: mutations lead to neurological defects

Cited by 274 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Silver hair in a neonate: a tale of 2 fatal cases;Oxford Medical Case Reports;2024-09-01

2. Albinism and Primary Immunodeficiency in Infants: A Case Study of Griscelli Syndrome;Cureus;2024-06-11

3. Skin Hypopigmentation in Hematology Disorders;Hematology Reports;2024-06-04

4. Melanophilin regulates dendritogenesis in melanocytes for feather pigmentation;Communications Biology;2024-05-17

5. Genetic Disorders of Pigmentation;Rook's Textbook of Dermatology;2024-03-19

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