A CASE OF TREACHER COLLINS SYNDROME

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 hetero...

詳細記述

書誌詳細

出版年:	Balkan Journal of Medical Genetics
主要な著者:	Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.
フォーマット:	論文
言語:	英語
出版事項:	Sciendo 2013-12-01
主題:	tcof1 gene treacher collins syndrome (tcs) mandibulofacial dysostosis de novo mutation
オンライン･アクセス:	https://doi.org/10.2478/bjmg-2013-0036