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

Affiliations

Manthoula Valari

First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens,

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