The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and...

Source: BMC Medical Genetics - October 31, 2020 Category: Genetics & Stem Cells Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia Tags: Case report Source Type: research