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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
The Korean Society of Pediatric Infectious Diseases
2024
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| Online Access: | http://psasir.upm.edu.my/id/eprint/113395/1/113395.pdf |