{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:21:55Z","timestamp":1773235315418,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:sec>\n                    <jats:title>Key Clinical Message<\/jats:title>\n                    <jats:p>The presence of more than one genetic\/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Abstract<\/jats:title>\n                    <jats:p>A 9\u2010month\u2010old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766\u2009+\u20091G\u2009&gt;\u2009A, homozygous), Angelman syndrome (5,5\u2009Mb deletion of 15q11.2\u2010q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C\u2009&gt;\u2009T, homozygous).<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ccr3.7275","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T02:55:30Z","timestamp":1682391330000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report"],"prefix":"10.1002","volume":"11","author":[{"given":"Maria Eugenia","family":"Amato","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de D\u00e9u Barcelona  Barcelona 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Salud Carlos III  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine\u2010IPER Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"},{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER) Instituto de Salud Carlos III  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guerau","family":"Fern\u00e1ndez\u00a0Isern","sequence":"additional","affiliation":[{"name":"Department of Genetic and Molecular Medicine\u2010IPER Institut de Recerca Sant Joan de D\u00e9u  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Manuel","family":"Mascaro","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Clinic  Barcelona 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dar\u00edo","family":"Ortigoza\u2010Escobar","sequence":"additional","affiliation":[{"name":"U\u2010703 Centre for Biomedical Research on Rare Diseases (CIBER\u2010ER) Instituto de Salud Carlos III  Barcelona Spain"},{"name":"Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de D\u00e9u Barcelona  Barcelona Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN\u2010RND)  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.4103\/tcmj.tcmj_103_19"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.08.014.Epilepsy"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.18921"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23592"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.2473"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37274.PDZD7"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-00884-4"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02108.x"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2003.09.013"},{"key":"e_1_2_9_11_1","first-page":"1","article-title":"Facts 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