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

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

Kyphoscoliotic Ehlers&#8722;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 <i>PLOD1</i> or <i>FKBP14</i...

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Bibliographic Details
Main Authors: Pei Jin Lim, Uschi Lindert, Lennart Opitz, Ingrid Hausser, Marianne Rohrbach, Cecilia Giunta
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:Genes
Subjects:
kyphoscoliotic Ehlers–Danlos Syndrome
EDS type VI
transcriptomics
connective tissue
extracellular matrix
<i>PLOD1</i>
<i>FKBP14</i>
Online Access:https://www.mdpi.com/2073-4425/10/7/517

Internet

https://www.mdpi.com/2073-4425/10/7/517

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