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

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...

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Bibliografiska uppgifter
I publikationen:BMC Med Genet
Huvudupphovsmän: Ni, Xiaolin, Jin, Chenxi, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Xia, Weibo
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2020
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7599977/
https://ncbi.nlm.nih.gov/pubmed/33129265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01154-3
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