{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T18:44:48Z","timestamp":1790275488108,"version":"4.1.0"},"reference-count":11,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T00:00:00Z","timestamp":1687219200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous disease\u2010causing variants in <jats:italic>BCL11B<\/jats:italic> are the basis of a rare neurodevelopmental syndrome with craniofacial and immunological involvement. Isolated craniosynostosis, without systemic or immunological findings, has been reported in one of the 17 individuals reported with this disorder till date. We report three additional individuals harboring de novo heterozygous frameshift variants, all lying in the exon 4 of <jats:italic>BCL11B<\/jats:italic>. All three individuals presented with the common findings of this disorder i.e. developmental delay, recurrent infections with immunologic abnormalities and facial dysmorphism. Notably, craniosynostosis of variable degree was seen in all three individuals. We, thus add to the evolving genotypes and phenotypes of <jats:italic>BCL11B<\/jats:italic>\u2010related BAFopathy and also review the clinical, genomic spectrum along with the underlying disease mechanisms of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63330","type":"journal-article","created":{"date-parts":[[2023,6,20]],"date-time":"2023-06-20T10:09:36Z","timestamp":1687255776000},"page":"2175-2180","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Further validation of craniosynostosis as a part of phenotypic spectrum of <scp><i>BCL11B<\/i><\/scp>\u2010related <scp>BAFopathy<\/scp>"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5700-7789","authenticated-orcid":false,"given":"Shruti","family":"Pande","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College, Manipal Manipal Academy of Higher Education  Manipal 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