Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydrox...

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Detalles Bibliográficos
Autores principales: Shin, Young-Lim, Park, You Na, Jang, Mi-Ae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073314/
https://www.ncbi.nlm.nih.gov/pubmed/32174067
http://dx.doi.org/10.3346/jkms.2020.35.e96

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073314/
https://www.ncbi.nlm.nih.gov/pubmed/32174067
http://dx.doi.org/10.3346/jkms.2020.35.e96

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