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- Title
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
- Authors
VALARI, Manthoula; THEODORAKI, Martha; LOUKAS, Ierotheos; GKANTSEVA-PATSOURA, Sylvia; KARAVANA, Georgia; FALAINA, Vasiliki; LYKOPOULOU, Lilia; PONS, Roser; ATHANASIOU, Ioannis; WERTHEIM-TYSAROWSKA, Katarzyna; KANAKA-GANTENBEIN, Christina; KIRITSI, Dimitra
- Abstract
The article presents a case study of an 38 weeks infant boy who was observed to have non-bilious vomiting with blood, without abdominal distention. Topics include an upper gastrointestinal tract examination with contrast material revealing a dilated stomach with obstruction at the pylorus; and skin lesions continuing to recur, and healing occurred without scarring, accompanied by mild atrophy.
- Subjects
MUSCULAR dystrophy; EPIDERMOLYSIS bullosa; HUMAN abnormalities; SKIN
- Publication
Acta Dermato-Venereologica, 2019, Vol 99, Issue 13, p1309
- ISSN
0001-5555
- Publication type
Article
- DOI
10.2340/00015555-3317