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Article

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

BMC musculoskeletal disorders - 16 Feb 2016

Desai Akshatha, Connolly John J, March Michael, Hou Cuiping, Chiavacci Rosetta, Kim Cecilia, Lyon Gholson, Hadley Dexter, Hakonarson Hakon

Abstract excerpt

BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells. The current study aimed at finding the mutation that causing EDS type VII C also known as "Dermatosparaxis" in this family. METHODS: Through systematic data querying of the electronic medical records (EMRs) of over 80,000 individuals, we recently identified an...

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Identifiers

PMID: 26879370
DOI: 10.1186/s12891-016-0936-8
PMCID: PMC4754938

Genes

ADAMTSL2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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