Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers–Danlos Syndrome

Kyphoscoliotic Ehlers–Danlos Syndrome (kEDS) is a rare genetic heterogeneous disease clinically characterized by congenital muscle hypotonia, kyphoscoliosis, and joint hypermobility. kEDS is caused by biallelic pathogenic variants in either PLOD1 or FKBP14. PLOD1 encodes the lysyl hydroxylase 1 enzy...

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Detalles Bibliográficos
Autores principales: Lim, Pei Jin, Lindert, Uschi, Opitz, Lennart, Hausser, Ingrid, Rohrbach, Marianne, Giunta, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678841/
https://www.ncbi.nlm.nih.gov/pubmed/31288483
http://dx.doi.org/10.3390/genes10070517

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