Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Volume: 17, Issue: 11, Pages: 1411 - 1416
Published: May 20, 2009
Abstract
So far, mutations in the human COL3A1 gene have been associated with the predominantly inherited Ehlers–Danlos syndrome (EDS), vascular type. Genotype–phenotype correlation perspectives collapsed, as haploinsufficiency, which was long suggested to confer a milder or unrecognized phenotype, was reported in four patients with a phenotype similar to that of vascular EDS. Here, we study a case of recessive EDS in a young consanguineous girl of...
Paper Details
Title
Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome
Published Date
May 20, 2009
Volume
17
Issue
11
Pages
1411 - 1416
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