Variants of LYST and novel STK4 gene mutation in a child with accelerated Chediak Higashi syndrome

Chediak-Higashi syndrome (CHS) is a rare haematological and immunodeficiency disorder that occurs in childhood leading to recurrent infections, bleeding tendencies and progressive neurological dysfunction. Partial oculocutaneous albinism occurs in almost all cases. The exact prevalence is unknown, a...

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Bibliographic Details
Main Authors: Abu Bakar, Asrar, Shunmugarajoo, Haema, Nachiappan, Jeyaseelan P., Ismail, Intan Hakimah
Format: Article
Language:en
Published: The Korean Society of Pediatric Infectious Diseases 2024
Online Access:http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf
http://psasir.upm.edu.my/id/eprint/113395/
https://piv.or.kr/DOIx.php?id=10.14776/piv.2024.31.e14
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