A novel LYST mutation causing Chédiak Higashi syndrome in a South African child

A novel LYST mutation causing Chédiak Higashi syndrome in a South African child

Chédiak Higashi syndrome (CHS) is a disorder of immune dysregulation characterised by oculocutaneous albinism. This report describes a 10-week old female with clinical and laboratory features of CHS. Genetic analysis confirmed a novel mutation in the LYST gene, predicted to skip exon 42 of the gene...

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Bibliographic Details
Main Authors: Joycelyn Assimeng Dame, Lee-Ann Phillips, Nico de Villiers, Komala Pillay, Carol Hlela, Brian Eley
Format: Article
Language:English
Published: Elsevier 2019-08-01
Series:Pediatric Hematology Oncology Journal
Online Access:http://www.sciencedirect.com/science/article/pii/S2468124519302360

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http://www.sciencedirect.com/science/article/pii/S2468124519302360

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