De novo TCOF1 mutation in Treacher Collins syndrome
Author:
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology and Child Health
Reference16 articles.
1. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4;Sanchez;Genet. Med. : Off. J. Am. College Med. Genet.,2020
2. Treacher Collins syndrome: etiology, pathogenesis and prevention;Trainor;Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.),2009
3. TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect;Fan;Orphanet J. Rare Dis.,2019
4. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation;Teber;Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.),2004
5. Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis;Sulik;Am. J. Med. Genet.,1987
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3. The role of genetic factors in microtia: A systematic review;F1000Research;2023-04-26
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