Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations - Manthoula Valari; Martha Theodoraki; Ierotheos Loukas; Sylvia Gkantseva-Patsoura; Georgia Karavana; Vasiliki Falaina; Lilia Lykopoulou; Roser Pons; Ioannis Athanasiou; Katarzyna Wertheim-Tysarowska; Christina Kanaka-Gantenbein; Dimitra Kiritsi (Medical Journals Sweden, 2019)