A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

Abstract Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole-exome sequencing (WES), Sanger sequenc...

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Bibliographic Details
Main Authors: Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Medical Genomics
Subjects:
Treacher Collins syndrome
TCOF1
Heterozygous variants
Whole-exome sequencing
Minigene
Ossicular chain malformation
Online Access:https://doi.org/10.1186/s12920-024-01828-4

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