{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T19:22:57Z","timestamp":1768677777052,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T00:00:00Z","timestamp":1554681600000},"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":[[2019,7]]},"abstract":"<jats:p>Treacher Collins syndrome (TCS) is a frequent cause of mandibulofacial dysostosis. To date, TCS\u2010causing mutations in three genes, namely <jats:italic>TCOF1<\/jats:italic>, <jats:italic>POLR1D,<\/jats:italic> and <jats:italic>POLR1C<\/jats:italic> have been identified. TCS is usually inherited in an autosomal dominant manner, with a high clinical variability and no phenotype\u2013genotype correlation. Up\u2010to now, five families have been reported with an autosomal recessive mode of inheritance due to mutations in <jats:italic>POLR1D<\/jats:italic> or <jats:italic>POLR1C<\/jats:italic>. We report here a new family with two sisters affected by mild TCS carrying compound <jats:italic>POLR1C<\/jats:italic> heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and <jats:italic>POLR1C<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/ajmg.a.61147","type":"journal-article","created":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T07:27:54Z","timestamp":1554708474000},"page":"1390-1394","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Autosomal recessive Treacher Collins syndrome due to <i>POLR1C<\/i> mutations: Report of a new family and review of the literature"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0540-5579","authenticated-orcid":false,"given":"Leila","family":"Ghesh","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Sophie","family":"Delemazure","sequence":"additional","affiliation":[{"name":"Service de radiologie, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Boyer","sequence":"additional","affiliation":[{"name":"Service d'ORL, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Corre","sequence":"additional","affiliation":[{"name":"Service de chirurgie maxillo\u2010faciale et stomatologie, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Perez","sequence":"additional","affiliation":[{"name":"Service d'odontologie conservatrice et p\u00e9diatrique, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale CHRU Montpellier, Facult\u00e9 de M\u00e9decine Montpellier\u2010N\u00eemes, Universit\u00e9 Montpellier 1  Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Louis","family":"Laplanche","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie et Biologie Mol\u00e9culaire H\u00f4pital Lariboisi\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie et Biologie Mol\u00e9culaire H\u00f4pital Lariboisi\u00e8re  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, CHU Nantes  Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.724"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30010"},{"key":"e_1_2_5_4_1","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam R. 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