Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree

In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split-hand/split-foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revealed to be associated with SHFM. Sanger sequencing confi...

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Detalles Bibliográficos
Autores principales: Yang, Xiao, Lin, Xinfu, Zhu, Yaobin, Luo, Jiewei, Lin, Genhui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983954/
https://www.ncbi.nlm.nih.gov/pubmed/29620206
http://dx.doi.org/10.3892/mmr.2018.8838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5983954/
https://www.ncbi.nlm.nih.gov/pubmed/29620206
http://dx.doi.org/10.3892/mmr.2018.8838

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