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The major clinical features of OTFCS include ear malformations (external\/middle\/inner ear), facial dysmorphism, shoulder girdle abnormalities, vertebral anomalies, and mild intellectual disability. The autosomal recessive form of OTFCS syndrome (OTFCS2) has been recently reported to be caused due to homozygous mutations in <jats:italic>PAX1<\/jats:italic> gene. Here we report a third family of OTFCS2 phenotype wherein whole exome sequencing identified a novel homozygous small insertion in <jats:italic>PAX1<\/jats:italic> as the underlying genetic cause.<\/jats:p>","DOI":"10.1002\/ajmg.a.38659","type":"journal-article","created":{"date-parts":[[2018,4,22]],"date-time":"2018-04-22T04:10:11Z","timestamp":1524370211000},"page":"1200-1206","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in <i>PAX1<\/i> gene"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7154-3449","authenticated-orcid":false,"given":"Siddaramappa Jagdish","family":"Patil","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Mazumdar Shaw Medical Center, Narayana Health City Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3318-8268","authenticated-orcid":false,"given":"Aneek","family":"Das Bhowmik","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venkatraman","family":"Bhat","sequence":"additional","affiliation":[{"name":"Department of Radiology Mazumdar Shaw Medical Center, Narayana Health City Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Venugopal","family":"Satidevi Vineeth","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rashmi","family":"Vasudevamurthy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Mazumdar Shaw Medical Center, Narayana Health City Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5929-745X","authenticated-orcid":false,"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[{"name":"Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Hyderabad India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,21]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Andrews S.(2010). 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