Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation inTCOF1
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference9 articles.
1. Mutation testing in Treacher Collins Syndrome
2. 2001. Syndromes of the head and neck, 4th edn. New York: Oxford University Press. pp 799-801.
3. Treacher Collins-Franceschetti syndrome with tracheoesophageal fistula, rectovaginal fistula, and anal atresia: Variant, or new syndrome?
4. High mutation detection rate inTCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Cited by 10 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity;Clinical Genetics;2022-10-17
2. Choanal atresia and stenosis: Development and diseases of the nasal cavity;WIREs Developmental Biology;2018-10-15
3. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome;Archives de Pédiatrie;2017-10
4. Two extraordinarily severe cases of Treacher Collins syndrome;American Journal of Medical Genetics Part A;2013-02-07
5. Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome;European Journal of Human Genetics;2012-02-08
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