{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T12:41:15Z","timestamp":1768567275300,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T00:00:00Z","timestamp":1647907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SATB2<\/jats:italic>\u2010associated syndrome (SAS) is a rare disorder characterized by developmental delay, behavioral problems, and craniofacial anomalies in particular dental and palatal abnormalities. We describe the clinical course, genetic and autopsy findings in a Chinese boy with global developmental delay, hypotonia, epilepsy, recurrent fractures and osteopenia. Brain magnetic resonance imaging showed pachygyria, white matter hypoplasia and hypogenesis of the corpus callosum. Whole\u2010exome sequencing identified a novel heterozygous missense variant c.1555G&gt;A p.(Glu519Lys) in the <jats:italic>SATB2<\/jats:italic> gene. Unfortunately, he died at 26\u2009months of bronchiolitis and pneumonia. Autopsy revealed pachygyria which was more severe anteriorly, dilated lateral and third ventricles and partial agenesis of the corpus callosum. Histology showed features compatible with two\u2010layered lissencephaly. The bone showed disordered lamination and bone matrix. Although SATB2 has been shown to be involved in the regulation of neuronal migration in the developing brain, lissencephaly has not been reported so far. This could represent a more severe phenotype of SAS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62732","type":"journal-article","created":{"date-parts":[[2022,3,22]],"date-time":"2022-03-22T11:02:04Z","timestamp":1647946924000},"page":"2168-2172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel finding of lissencephaly and severe osteopenia in a Chinese patient with <scp><i>SATB2<\/i><\/scp>\u2010associated syndrome and a brief review of literature"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3302-7093","authenticated-orcid":false,"given":"Hui\u2010Yin","family":"Lo","sequence":"first","affiliation":[{"name":"Department of Pathology Princess Margaret Hospital  Kowloon Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wai\u2010Fu","family":"Ng","sequence":"additional","affiliation":[{"name":"Department of Pathology Hong Kong Children's Hospital  Kowloon Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nai\u2010Chung","family":"Fong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine Princess Margaret Hospital  Kowloon Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Choi\u2010Yu Dilys","family":"Lui","sequence":"additional","affiliation":[{"name":"Department of Radiology Princess Margaret Hospital  Kowloon Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching\u2010Wan","family":"Lam","sequence":"additional","affiliation":[{"name":"Department of Pathology The University of Hong Kong, Queen Mary Hospital  Pok Fu Lam Hong Kong"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,3,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2007.12.012"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084491"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.211"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37847"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.01.002"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2006.05.012"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.jnen.0000182978.56612.41"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31402"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.163"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12698"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20515"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.04.006"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36769"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31602"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.850"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320318"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.03.028"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01145.x"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.05.005"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23771"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12982"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36849"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38630"},{"issue":"5","key":"e_1_2_7_27_1","first-page":"704","article-title":"Bone health and SATB2\u2010associated syndrome","volume":"23","author":"Zarate Y. 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