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Article

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

BMC medical genetics - 31 Oct 2020

Ni Xiaolin, Jin Chenxi, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo

Abstract excerpt

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 hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as...

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PMID: 33129265
DOI: 10.1186/s12881-020-01154-3
PMCID: PMC7599977

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