Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome

BACKGROUND: Treacher Collins syndrome (TCS) is the most common mandibulofacial dysostosis with an autosomal dominant or rarely recessive manner of inheritance. It is still challenging to make a definite diagnosis for affected fetuses with TCS only depending on the ultrasound screening. Genetic tests...

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Detalles Bibliográficos
Autores principales: Liu, Jing, Lin, Pengsiyuan, Pang, Jialun, Jia, Zhengjun, Peng, Ying, Xi, Hui, Wu, Lingqian, Li, Zhuo, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434750/
https://www.ncbi.nlm.nih.gov/pubmed/32543076
http://dx.doi.org/10.1002/mgg3.1313

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