{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T19:04:21Z","timestamp":1770750261737,"version":"3.50.0"},"reference-count":8,"publisher":"Georg Thieme Verlag KG","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient affected by BCL11B-related disorder, providing the first extensive demonstration of clinical and neuroradiological progressive course of the disease, with possible implications on the way it is studied and followed-up. Never described clinical aspects such as toes abnormalities and hypospadias widen the range of dysmorphisms associated with this condition. Our data suggest that BCL11B mutations may be implicated not only in impaired morphogenesis and hematopoiesis but also in progressive central nervous system damage, which remains to be further investigated and clarified.<\/jats:p>","DOI":"10.1055\/s-0041-1736193","type":"journal-article","created":{"date-parts":[[2021,11,30]],"date-time":"2021-11-30T00:18:47Z","timestamp":1638231527000},"page":"283-286","source":"Crossref","is-referenced-by-count":8,"title":["Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder"],"prefix":"10.1055","volume":"53","author":[{"given":"Enrico","family":"Alfei","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Cattaneo","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Pediatrics, \u201cVittore Buzzi\u201d Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luigina","family":"Spaccini","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit, Department of Obstetrics and Gynecology, \u201cVittore Buzzi\u201d Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratory, Hospital Papa Giovanni XXIII, Bergamo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierangelo","family":"Veggiotti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, \u201cVittore Buzzi\u201d Children's Hospital, Department of Biomedical and Clinical Sciences \u201cL. Sacco,\u201d University of Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Doneda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology and Neuroradiology, \u201cVittore Buzzi\u201d Children's Hospital - ASST Fatebenefratelli-Sacco, Milan, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2021,11,29]]},"reference":[{"issue":"09","key":"ref1","doi-asserted-by":"crossref","first-page":"104007","DOI":"10.1016\/j.ejmg.2020.104007","article-title":"BCL11B-related disorder in two canadian children: Expanding the clinical phenotype","volume":"63","author":"M Prasad","year":"2020","journal-title":"Eur J Med Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"89","DOI":"10.3389\/fncel.2017.00089","article-title":"Bcl11b-A critical neurodevelopmental transcription factor-roles in health and disease","volume":"11","author":"M J Lennon","year":"2017","journal-title":"Front Cell Neurosci"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"581674","DOI":"10.3389\/fcell.2020.581674","article-title":"Bcl11b\/Ctip2 in skin, tooth, and craniofacial system","volume":"8","author":"M T Daher","year":"2020","journal-title":"Front Cell Dev Biol"},{"issue":"08","key":"ref4","doi-asserted-by":"crossref","first-page":"2299","DOI":"10.1093\/brain\/awy173","article-title":"BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells","volume":"141","author":"D Lessel","year":"2018","journal-title":"Brain"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"544894","DOI":"10.3389\/fped.2020.544894","article-title":"Mutant BCL11B in a patient with a neurodevelopmental disorder and T-cell abnormalities","volume":"8","author":"S Yang","year":"2020","journal-title":"Front Pediatr"},{"issue":"22","key":"ref6","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1056\/NEJMoa1509164","article-title":"Multisystem anomalies in severe combined immunodeficiency with mutant BCL11B","volume":"375","author":"D Punwani","year":"2016","journal-title":"N Engl J Med"},{"issue":"03","key":"ref7","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1523\/JNEUROSCI.2986-07.2008","article-title":"Ctip2 controls the differentiation of medium spiny neurons and the establishment of the cellular architecture of the striatum","volume":"28","author":"P Arlotta","year":"2008","journal-title":"J Neurosci"},{"issue":"03","key":"ref8","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1016\/j.stemcr.2019.07.015","article-title":"CTIP2-regulated reduction in PKA-dependent DARPP32 phosphorylation in human medium spiny neurons: implications for Huntington disease","volume":"13","author":"M Fjodorova","year":"2019","journal-title":"Stem Cell Reports"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0041-1736193.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,5]],"date-time":"2022-09-05T23:45:42Z","timestamp":1662421542000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0041-1736193"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,29]]},"references-count":8,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2022,9,5]]},"published-print":{"date-parts":[[2022,8]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0041-1736193","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,29]]}}}