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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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Peng, Ying, Yang, Shuting, Xi, Hui, Hu, Jiancheng, Jia, Zhengjun, Pang, Jialun, Liu, Jing, Yu, Wenxian, Tang, Chengyuan, Wang, Hua
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8104154/
https://ncbi.nlm.nih.gov/pubmed/33471964
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1604
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