Genital anomalies in a patient with Treacher Collins syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. American Journal of Medical Genetics 01487299 10968628 2004
2. Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1;Dixon;Hum Mol Genet,1997
3. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome;Dixon;Hum Mol Genet,2000
4. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities;Dixon;Proc Natl Acad Sci,2006
Cited by 3 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. A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4;Molecular Syndromology;2021
3. Two extraordinarily severe cases of Treacher Collins syndrome;American Journal of Medical Genetics Part A;2013-02-07
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