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
DOI: 10.2340/00015555-3317
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