Article
Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.
European journal of human genetics : EJHG - 1 Oct 2025
Green Claire E, Albaba Shadi, Sobey Glenda J, Bowen Jessica M, Donnelly Deirdre E, Colombi Marina, Ritelli Marco, Melville Athalie, Ghali Neeti, van Dijk Fleur S, Hobson Emma, Radley Jessica A, Kinning Esther, Dixit Abhijit, McCullough Simon, Baker Duncan, Johnson Diana S
Abstract excerpt
Interstitial deletions of 2q32 are typically identified after investigation for developmental delay. Two genes associated with Ehlers Danlos Syndrome (EDS); COL3A1 and COL5A2 associated with vascular EDS and classical EDS respectively, may be incorporated in the region. Although many reports of 2q32 microdeletion patients exist, there is little mention of these genes with only a few reports highlighting features...
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