Draft Copy – (August 14, 2020 update: still working on this subpage!)
This page keeps track of research related to kyphoscoliotic Ehlers-Danlos syndrome (kEDS). Current topics include PLOD1, FKBP14, hydroxylase, and more.
- The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation Nov 1, 2020
- Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene Aug 4, 2020
- Newly ID’d Mutation in FKBP14 Gene Linked to Kyphoscoliotic EDS Apr 16, 2020
- Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing Feb 26, 2020
- Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome Jul 8, 2019
EDS VIA; EDS, kyphoscoliotic type; EDS, oculoscoliotic type; Ehlers-Danlos syndrome type 6A (formerly); Ehlers-Danlos syndrome, kyphoscoliotic type; Ehlers-Danlos syndrome, oculoscoliotic type; Ehlers-danlos syndrome oculoscoliotic type; EDS 6 (formerly); Ehlers-Danlos syndrome type 6 (formerly); Ehlers-Danlos syndrome type 6A; Cutis hyperelastica; kEDS-PLOD1; Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency; Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency; Lysyl hydroxylase-deficient EDS; Ocular-scoliotic EDS; Nevo syndrome; Ehlers-Danlos syndrome, kyphoscoliosis type; Kyphoscoliotic EDS; kEDS