Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome

Abstract Background Treacher Collins Ι syndrome (TCS1, OMIM:154500) is an autosomal dominant disease with a series of clinical manifestations such as craniofacial dysplasia including eye and ear abnormalities, small jaw deformity, cleft lip, as well as repeated respiratory tract infection and conduc...

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Bibliographic Details
Main Authors: Dan‐Yan Zhuang, Shu‐Ni Sun, Zhuo‐Jie Hu, Min Xie, Yu‐Xin Zhang, Lu‐Lu Yan, Jie‐Wen Pan, Hai‐bo Li
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
craniofacial dysplasia
novel variation
TCOF1
Treacher Collins syndrome
Online Access:https://doi.org/10.1002/mgg3.2405

Internet

https://doi.org/10.1002/mgg3.2405

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