A CASE OF TREACHER COLLINS SYNDROME

Ulusal, S.; Gürkan, H.; Vatansever, Ü.; Kürkçü, K.; Tozkir, H.; Acunaş, Ba.

doi:10.2478/bjmg-2013-0036

Abstract

Treacher 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

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A CASE OF TREACHER COLLINS SYNDROME

Abstract

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