{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T17:00:16Z","timestamp":1771261216625,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T00:00:00Z","timestamp":1586563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Qatar National Library"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the <jats:italic>FOXA2<\/jats:italic> leading to the above complex phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Haploinsufficiency of the <jats:italic>FOXA2<\/jats:italic> only gene is associated with a multisystem disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1086","type":"journal-article","created":{"date-parts":[[2020,4,11]],"date-time":"2020-04-11T07:39:32Z","timestamp":1586590772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Haploinsufficiency of the <i>FOXA2<\/i> associated with a complex clinical phenotype"],"prefix":"10.1002","volume":"8","author":[{"given":"Idris","family":"Mohammed","sequence":"first","affiliation":[{"name":"College of Health &amp; Life Sciences Hamad Bin Khalifa University Doha Qatar"},{"name":"Division of Endocrinology Department of Pediatric Medicine Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3010-309X","authenticated-orcid":false,"given":"Sara","family":"Al\u2010Khawaga","sequence":"additional","affiliation":[{"name":"College of Health &amp; Life Sciences Hamad Bin Khalifa University Doha Qatar"},{"name":"Division of Endocrinology Department of Pediatric Medicine Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Bohanna","sequence":"additional","affiliation":[{"name":"Department of Radiology Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdusamea","family":"Shabani","sequence":"additional","affiliation":[{"name":"Division of Pathology Genetics Department of Pathology Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faiyaz","family":"Khan","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatric Medicine Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald R.","family":"Love","sequence":"additional","affiliation":[{"name":"Department of Radiology Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zafar","family":"Nawaz","sequence":"additional","affiliation":[{"name":"Diagnostic Genomic Division Department of Laboratory Medicine and Pathology Hamad Medical Corporation Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5480-7112","authenticated-orcid":false,"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Division of Endocrinology Department of Pediatric Medicine Sidra Medicine Doha Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.12.729"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90522-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2004.08.006"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.11.004"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35921"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.4.264"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-006-6095-6"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.2009-0513"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1752608"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200507000-00006"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx318"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11894-010-0169-1"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01749.x"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.2013-1843"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1043-2760(00)00271-X"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2010.06.005"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/4364216"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20863"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1618433114"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI21149"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10616"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.901601"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22786"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2017-02157"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111037200"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90523-1"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33763"}],"container-title":["Molecular Genetics &amp; 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