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,...

Full description

Bibliographic Details

Main Authors:	Abu Bakar, Asrar, Shunmugarajoo, Haema, Nachiappan, Jeyaseelan P., Ismail, Intan Hakimah
Format:	Article
Language:	en en
Published:	Korean Society of Pediatric Infectious Diseases 2024
Subjects:	RJ Pediatrics RJ370 Disease of children RJ58 Clinical cases
Online Access:	http://irep.iium.edu.my/111993/2/111993_Variants%20of%20LYST%20and%20Novel.pdf http://irep.iium.edu.my/111993/8/111993_Variants%20of%20LYST%20and%20Novel%20STK4%20Gene%20Mutation%20in%20a%20Child%20With%20Accelerated%20Chediak%20Higashi%20Syndrome_SCOPUS.pdf http://irep.iium.edu.my/111993/ https://piv.or.kr/DOIx.php?id=10.14776/piv.2024.31.e14 https://doi.org/10.14776/piv.2024.31.e14
Tags:	Add Tag No Tags, Be the first to tag this record!