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

• Asıl Yazarlar: Xiaolin Ni (Yazar), Chenxi Jin (Yazar), Yan Jiang (Yazar), Ou Wang (Yazar), Mei Li (Yazar), Xiaoping Xing (Yazar), Weibo Xia (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-10-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...