Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome | BMC Medical Genetics | Full Text

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome | BMC Medical Genetics | Full Text

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome

Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, whic...

Authors:Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan

Citation:BMC Medical Genetics 2020 21:4

Content type:Case report

Published on: 6 January 2020

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