- by
variations in the gene PLOD1, or rarely, in the FKBP14 gene.
Musculocontractural EDS (mcEDS) is
characterized by
congenital multiple contractures...
-
glycosylation Craniosynostosis and
dental anomalies Ehlers–Danlos syndrome,
musculocontractural type Ehlers–Danlos syndrome,
spondylodysplastic type, 1 Intellectual...
- database. NCBI.
Retrieved 21
March 2013. "Ehlers-Danlos syndrome,
musculocontractural type –
Genetic and Rare
Diseases Information Center (GARD) – an NCATS...
-
within collagen bundles.
Mutation of CHST14 is ****ociated with the
Musculocontractural type of Ehlers–Danlos syndromes,
recently specified as CHST14/D4ST1...
- same
protein have been
found for this gene. Ehlers-Danlos
syndrome Musculocontractural type is ****ociated with
mutations in the DSE gene. GRCh38: Ensembl...
- syndrome,
hypermobility type; 130020; TNXB Ehlers-Danlos syndrome,
musculocontractural type; 601776; CHST14 Ehlers–Danlos syndrome,
progeroid form; 130070;...
