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- W1582530456 abstract "Results: We found a complex chromosomal rearrangement including breaks in 4q12, fragility in the 9q11-13 band region and 9qh+. Cytogenetic results agree with the literature findings. The mutation analysis of the p63 gene revealed no mutation. Conclusion: The phenotype of our patient may be due to variable expressivity and penetrance of the p63 gene and to other genetic factors, or the mutation can be located in the other 4 loci for SHFM. Additional minor modifying genes, which predispose to non-syndromic cleft palate, could also contribute to the expression of the cleft palate component of the EEC syndrome." @default.
- W1582530456 created "2016-06-24" @default.
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- W1582530456 date "2007-03-01" @default.
- W1582530456 modified "2023-09-27" @default.
- W1582530456 title "Chromosome and p63 Gene Analysis of an Infant with Ectrodactyly–Split Hand and Foot Malformation" @default.
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