| Literature DB >> 24478233 |
Marie T Greally1, Neale N Kalis, Wahid Agab, Kasim Ardati, Sanda Giurgea, Uwe Kornak, Lionel Van Maldergem.
Abstract
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.Entities:
Keywords: ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A)
Mesh:
Substances:
Year: 2014 PMID: 24478233 DOI: 10.1002/ajmg.a.36411
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802