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

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 such as c...

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Detalles Bibliográficos
Autores principales: Peng, Ying, Yang, Shuting, Xi, Hui, Hu, Jiancheng, Jia, Zhengjun, Pang, Jialun, Liu, Jing, Yu, Wenxian, Tang, Chengyuan, Wang, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104154/
https://www.ncbi.nlm.nih.gov/pubmed/33471964
http://dx.doi.org/10.1002/mgg3.1604

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104154/
https://www.ncbi.nlm.nih.gov/pubmed/33471964
http://dx.doi.org/10.1002/mgg3.1604

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