Valari, M.; Theodoraki, M.; Loukas, I.; Gkantseva-Patsoura, S.; Karavana, G.; Falaina, V.; Lykopoulou, L.; Pons, R.; Athanasiou, I.; Wertheim-Tysarowska, K. Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations. Acta Derm Venereol 2019, 99, 1309-1310.