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

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

Abstract Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydr...

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Bibliographic Details
Main Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia
Format: Article
Language:English
Published: BMC 2020-10-01
Series:BMC Medical Genetics
Subjects:
Kyphoscoliotic ehlers-danlos syndrome; PLOD1 gene; mutation; case report
Online Access:http://link.springer.com/article/10.1186/s12881-020-01154-3

Internet

http://link.springer.com/article/10.1186/s12881-020-01154-3

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