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

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 syste...

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Bibliografiske detaljer
Udgivet i:BMC Musculoskelet Disord
Main Authors: Desai, Akshatha, Connolly, John J., March, Michael, Hou, Cuiping, Chiavacci, Rosetta, Kim, Cecilia, Lyon, Gholson, Hadley, Dexter, Hakonarson, Hakon
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4754938/
https://ncbi.nlm.nih.gov/pubmed/26879370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-016-0936-8
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