Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family

Abstract Background Split hand/foot malformation (SHFM) is a congenital limb developmental disorder, which impairs the fine activities of hand/foot in the affected individuals seriously. SHFM is commonly inherited as an autosomal dominant disease with incomplete penetrance. Chromosomal aberrations s...

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Bibliographic Details
Main Authors: Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
chromosome translocation
split hand/foot malformation
TP63
whole genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1604

Internet

https://doi.org/10.1002/mgg3.1604

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