Article
ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype.
Experimental dermatology - 1 Oct 2019
Beyens Aude, Moreno-Artero Ester, Bodemer Christine, Cox Helen, Gezdirici Alper, Yilmaz Gulec Elif, Kahloul Najoua, Khau Van Kien Philippe, Ogur Gonul, Harroche Annie, Vasse Marc, Salhi Aïcha, Symoens Sofie, Hadj-Rabia Smail, Callewaert Bert
Abstract excerpt
In ATP6V0A2-related cutis laxa, the skin phenotype varies from a wrinkly skin to prominent cutis laxa and typically associates with skeletal and neurological manifestations. The phenotype remains incompletely characterized, especially in adult patients. Glycosylation defects and reduced acidification of secretory vesicles contribute to the pathogenesis, but the consequences at the clinical level remain to be...
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