{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:06Z","timestamp":1747146186926,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T00:00:00Z","timestamp":1594944000000},"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":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Orofaciodigital syndrome (OFD) can have variable phenotype and presents with oral anomalies, facial dysmorphism, and digital malformations like syndactyly, and polydactyly. Other presentations also include renal and cardiac defects, and central nervous system anomalies like hydrocephalus and cerebellar abnormalities. OFD1 is a X\u2010linked dominant form of the syndrome presenting in females with mutations in <jats:italic>CXorf5<\/jats:italic> or <jats:italic>OFD1<\/jats:italic> gene. We describe a young child with sparse hairs, milia over face and absence of corpus callosum. Next generation sequencing showed frameshift pathogenic variant in the exon 13 of the <jats:italic>OFD1<\/jats:italic> gene, consistent with diagnosis of OFD1.<\/jats:p>","DOI":"10.1002\/ajmg.a.61768","type":"journal-article","created":{"date-parts":[[2020,7,17]],"date-time":"2020-07-17T09:15:50Z","timestamp":1594977350000},"page":"2236-2238","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Indian child with novel variant in <scp>OFD1<\/scp> gene"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7375-9892","authenticated-orcid":false,"given":"Inusha","family":"Panigrahi","sequence":"first","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, APC, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chirag","family":"Ahuja","sequence":"additional","affiliation":[{"name":"Radio\u2010Diagnosis, APC, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0080-2172","authenticated-orcid":false,"given":"Chakshu","family":"Chaudhry","sequence":"additional","affiliation":[{"name":"Genetic Metabolic Unit, Department of Pediatrics, APC, PGIMER  Chandigarh India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38179"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22224"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104436"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/318802"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20437"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1139-1"},{"key":"e_1_2_7_8_1","unstructured":"Online Mendelian Inheritance in Man\u00ae. 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