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Acta Dermato-Venereologica
(Oct 2019)
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
DOI
https://doi.org/10.2340/00015555-3317
Journal volume & issue
Vol. 99, no. 13
pp. 1309 – 1310
Abstract
Read online
No abstracts available.
Keywords
epidermolysis bullosa
plectin
intermediate filaments
skin blistering
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