{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:44:01Z","timestamp":1777805041273,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:p>\n                    We present a patient with dystrophinopathy and additional complex genetic variants to highlight potential challenges in directing the care and discussion of treatment options. A 12-month-old male child presented to neurology with global delays, including gross motor and speech delay, macrocephaly with frontal bossing, short stature, and hypertelorism. He underwent extensive genetic workup, which identified 4 genetic diagnoses including an intragenic\n                    <jats:italic toggle=\"yes\">DMD<\/jats:italic>\n                    inversion flanked by single exon deletions, a telomere biology disorder, and 2 neurodevelopmental conditions. Our case highlights the need for heightened awareness of atypical dystrophinopathy phenotypes and utility of emerging genetic testing technologies. In an era of novel therapeutics, including genetically-based treatments, the constellation of genetic variants poses potentially interesting and unique challenges for treatment.\n                  <\/jats:p>","DOI":"10.1177\/08830738251383989","type":"journal-article","created":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T18:13:26Z","timestamp":1760552006000},"page":"738-742","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Quadruple the Considerations: Four Genetic Conditions Unveiled in the Setting of Developmental Delays Including a Complex\n                    <i>DMD<\/i>\n                    Rearrangement, Telomere Biology Disorder, and Neurodevelopmental Disorders"],"prefix":"10.1177","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-5373-2254","authenticated-orcid":false,"given":"Allison G.","family":"Wheeler","sequence":"first","affiliation":[{"name":"University of Colorado Anschutz School of Medicine\/Children's Hospital Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaylee","family":"Dollerschell","sequence":"additional","affiliation":[{"name":"University of Colorado Anschutz School of Medicine\/Children's Hospital Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A.","family":"Gibbons","sequence":"additional","affiliation":[{"name":"University of Colorado Anschutz School of Medicine\/Children's Hospital Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7542-9053","authenticated-orcid":false,"given":"Michele L.","family":"Yang","sequence":"additional","affiliation":[{"name":"University of Colorado Anschutz School of Medicine\/Children's Hospital Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,10,15]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26803"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30026-7"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26755"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2024.01.003"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2024.11.005"},{"key":"e_1_3_3_9_2","volume-title":"Telomere Biology Disorders Diagnosis and Management Guidelines, Second Edition","author":"Agrawal S","year":"2022","unstructured":"Agrawal S, Savage S, Barrett Stevens K. Telomere Biology Disorders Diagnosis and Management Guidelines, Second Edition. 2022. https:\/\/teamtelomere.org\/wp-content\/uploads\/2022\/04\/Telomere-Biology-Disorders_-Diagnosis-and-Management-Guidelines.pdf."},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.01.018"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awy304"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1128\/JVI.75.15.6969-6976.2001"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508124102"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2023.08.013"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2025.02.025"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms241914716"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251383989","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251383989","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251383989","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:42:01Z","timestamp":1777495321000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251383989"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,15]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1177\/08830738251383989"],"URL":"https:\/\/doi.org\/10.1177\/08830738251383989","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,15]]}}}