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Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.

Autor: Amato ME; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona Barcelona Spain., Ricart S; Chronic Complex and Palliative Pediatric Service Hospital Sant Joan de Déu Barcelona Barcelona Spain., Vicente MA; Department of Dermatology Hospital Sant Joan de Déu Barcelona Spain.; European Reference Network for rare skin diseases (ERN-Skin) Barcelona Spain.; CSUR Epidermolisis Ampollosa Hereditaria Barcelona Spain., Martorell L; Department of Genetic and Molecular Medicine-IPER Institut de Recerca Sant Joan de Déu Barcelona Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain., Armstrong J; Department of Genetic and Molecular Medicine-IPER Institut de Recerca Sant Joan de Déu Barcelona Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain., Fernández Isern G; Department of Genetic and Molecular Medicine-IPER Institut de Recerca Sant Joan de Déu Barcelona Spain., Mascaro JM; Department of Dermatology Hospital Clinic Barcelona Spain., Balsells S; Department of Statistics Institut de Recerca Sant Joan de Déu Barcelona Spain., Alonso I; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona Barcelona Spain., Serrano M; Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona Barcelona Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain., Ortigoza-Escobar JD; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Instituto de Salud Carlos III Barcelona Spain.; Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de Déu Barcelona Barcelona Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND) Barcelona Spain.

Publikováno v: Clinical case reports [Clin Case Rep] 2023 Apr 24; Vol. 11 (4), pp. e7275. Date of Electronic Publication: 2023 Apr 24 (Print Publication: 2023).