A Chinese case of Nakajo –Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene

Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSM...

Source: BMC Medical Genetics - June 8, 2020 Category: Genetics & Stem Cells Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng Tags: Case report Source Type: research