Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

Authors

  • 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:

https://doi.org/10.2340/00015555-3317

Keywords:

epidermolysis bullosa, plectin, intermediate filaments, skin blistering

Abstract

Abstract is missing (Short communication)

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Published

2019-10-16

How to Cite

Valari, M., Theodoraki, M., Loukas, I., Gkantseva-Patsoura, S., Karavana, G., Falaina, V., … Kiritsi, D. (2019). Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations. Acta Dermato-Venereologica, 99(13), 1309–1310. https://doi.org/10.2340/00015555-3317

Issue

Vol. 99 No. 13 (2019): December

Section

Short Communication

License

Copyright (c) 2019 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

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