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The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset p...

Objectives: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a prevalent but poorly understood connective tissue disorder lacking molecular diagnostic markers. This study aimed to identify proteomic biomarkers in hEDS to elucidate underlying pathophysiology and support objective diagnostic and therapeut...
ORGANISM(S): Homo sapiens (Human) 
2025-09-29 | PXD062941 | Pride
Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homol...
ORGANISM(S): Homo sapiens (Human) 
2023-08-09 | PXD043691 | Pride
CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
Transcriptomic analysis of fibroblast from 10 Ehlers-Danlos SYndrome (EDS) patients.
To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy indi...
ORGANISM(S): Homo sapiens 
Transcriptomic analysis of Multicellular spheroids from 10 Ehlers-Danlos SYndrome (EDS) patients.
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