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- W2056531571 abstract "Ectodermal dysplasias caused by mutations in the TP63 gene comprise a group of disorders characterized by a spectrum of ectodermal changes, orofacial clefting, and split hand or foot malformation. We report on a boy with a mutation located in the DNA-binding domain of the TP63 gene with atypical phenotype. These data provide additional evidence of the great variability seen in TP63-related disorders and further delineation of genotype-phenotype correlations." @default.
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- W2056531571 date "2014-09-10" @default.
- W2056531571 modified "2023-10-07" @default.
- W2056531571 title "Ectodermal Defects and Anal Atresia in a Child with a <i><scp>TP</scp>63</i> Mutation‐Expanding the Phenotypic Spectrum" @default.
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- W2056531571 doi "https://doi.org/10.1111/pde.12395" @default.
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