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Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X, Lin X, Zhu Y, Luo J, Lin G. Yang X, et al. Mol Med Rep. 2018 Jun;17(6):7553-7558. doi: 10.3892/mmr.2018.8838. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620206 Free PMC article.
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63. The R243Q mutation was predicted to be pathogenic by PolyPhen-2. The proband, who was diagnosed with …
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding sit …
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY, Zeng L, Li K, He JQ, Pang X, Huang H, Xiang R, Tang JY. Jin JY, et al. J Gene Med. 2019 Oct;21(10):e3122. doi: 10.1002/jgm.3122. Epub 2019 Aug 30. J Gene Med. 2019. PMID: 31420900
We detected the mutation by multiple sequence alignments and a bioinformatic prediction. RESULTS: We identified a novel missense mutation of TP63 (c.1010G>T; R337L) in the family without mutations of DLX5, WNT8B, WNT10B, BHLHA9, CDH3, DYNC1I1, FGFR1 and copy number vari …
We detected the mutation by multiple sequence alignments and a bioinformatic prediction. RESULTS: We identified a novel missense muta …