{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T18:00:01Z","timestamp":1778868001472,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T00:00:00Z","timestamp":1653091200000},"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":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding Motif Containing 1 gene (<jats:italic>AHDC1<\/jats:italic>) causing Xia\u2010Gibbs syndrome. The diagnosis was made by clinical exome in both cases. Inconsistent dysmorphic features such as dolichocephaly in the first patient and brachycephaly in the second were observed. Prominent jaw and gelastic seizures were other features of patient 1. Thus, this syndrome, with developmental delay, poor expressive language and overlapping clinical phenotype requires the utility of next generation sequencing for diagnostic confirmation.<\/jats:p>","DOI":"10.1002\/ajmg.a.62844","type":"journal-article","created":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T11:25:10Z","timestamp":1653132310000},"page":"2501-2504","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["First reported cases with <scp>Xia\u2010Gibbs<\/scp> syndrome from India harboring novel variants in <scp><i>AHDC1<\/i><\/scp>"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8973-370X","authenticated-orcid":false,"given":"Sumita","family":"Danda","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Christian Medical College and Hospital  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaitanya","family":"Datar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Genetics Unit Bharati Vidyapeeth Medical College and Hospital  Pune India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Archana","family":"Kher","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Genetics Unit Bharati Vidyapeeth Medical College and Hospital  Pune India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanmay","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Genetics Unit Bharati Vidyapeeth Medical College and Hospital  Pune India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maya Mary","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Christian Medical College and Hospital  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel P.","family":"Oommen","sequence":"additional","affiliation":[{"name":"Department of Developmental Paediatrics Christian Medical College and Hospital  Vellore India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38699"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xhgg.2021.100049"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a003608"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40380"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.04.006"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62844","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62844","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62844","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T06:16:31Z","timestamp":1692857791000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62844"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,21]]},"references-count":5,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ajmg.a.62844"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62844","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,5,21]]},"assertion":[{"value":"2021-02-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}