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...

Source: BMC Medical Genetics - January 6, 2020 Category: Genetics & Stem Cells Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan Tags: Case report Source Type: research