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Diagnostic yield can be low, but in certain cohorts the likelihood of a positive genetic diagnosis increases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      We report a pediatric patient with global development delay with no regression, ASD, behavioral issues, and macrocephaly, carrying a novel\n                      <jats:italic>de novo<\/jats:italic>\n                      heterozygous loss-of-function variant in\n                      <jats:italic>WDFY3<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      <jats:italic>WDFY3<\/jats:italic>\n                      plays a key role in neurodevelopment and cerebral size regulation. This case adds to the emerging evidence implicating monoallelic\n                      <jats:italic>WDFY3<\/jats:italic>\n                      variants in ASD and underscoring the diagnostic value of genetic testing in complex neurodevelopmental presentations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s43042-026-00849-1","type":"journal-article","created":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T11:03:49Z","timestamp":1772276629000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel variant in WDFY3 in a girl with autism spectrum disorder, macrocephaly and no regression"],"prefix":"10.1186","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1081-5185","authenticated-orcid":false,"given":"Teresa","family":"Tavares","sequence":"first","affiliation":[]},{"given":"In\u00eas","family":"Carrilho","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0091","authenticated-orcid":false,"given":"Celia","family":"Azevedo Soares","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2026,2,28]]},"reference":[{"issue":"8","key":"849_CR1","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1016\/j.tins.2020.05.004","volume":"43","author":"I Parenti","year":"2020","unstructured":"Parenti I, Rabaneda LG, Schoen H, Novarino G (2020) Neurodevelopmental Disorders: From Genetics to Functional Pathways. 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Informed consent was obtained from parents for all diagnostic and therapeutic procedures. Confidentiality and privacy of the patient and her parents are maintained.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s parents for publication of this case report.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"T.T. and I.C. have declared that no competing interests exist.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"22"}}