Yazar "Gulec, Elif Yilmaz" için listeleme
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ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
Beyens, Aude; Moreno-Artero, Ester; Bodemer, Christine; Cox, Helen; Gezdirici, Alper; Gulec, Elif Yilmaz; Callewaert, Bert (Wiley, 2019)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, ...
