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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2019-08-01
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| Series: | Pediatric Hematology Oncology Journal |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2468124519302360 |