Ulusal, S.Gurkan, H.Vatansever, U.Kurkcu, K.Tozkir, H.Acunas, B. A.2024-06-122024-06-1220131311-0160https://doi.org/10.2478/bjmg-2013-0036https://hdl.handle.net/20.500.14551/24180Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder. Here we report TCS in an individual who has a heterozygous c. 1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). This is the second Turkish patient with a severe TCS phenotype resulting from a de novo c. 1021_1022delAG mutation.en10.2478/bjmg-2013-0036info:eu-repo/semantics/openAccessTCOF1 GeneTreacher Collins Syndrome (TCS)Mandibulofacial DysostosisDe Novo MutationDysostosisGeneArticle1627780Q4WOS:0003329427000122-s2.0-8490360314824778568Q4