Dataset Information

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

ABSTRACT: The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based upon a review of 40 cases. The results suggested that rs16864880 may not be directly related to ADULT syndrome. However, it is not possible to exclude its participation in gene interactions in the limb development pathway.

SUBMITTER: Kawasaki de Araujo T

PROVIDER: S-EPMC5498955 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Kawasaki de Araujo Tânia T Lustosa-Mendes Elaine E Dos Santos Ana P AP Coelho Molck Miriam M Mazzariol Volpe-Aquino Roberta R Gil-da-Silva-Lopes Vera L VL

Molecular syndromology 20170413 4

The TP63 gene has been described in 5 overlapping limb malformation disorders, including a rare autosomal dominant ectodermal disorder named acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome. This article describes 2 patients with ectrodactyly and variable features related to ectodermal dysplasia/ADULT syndrome, and the polymorphism rs16864880 in the TP63 gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based up ...[more]

PMID: 28690486

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Dataset Information

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Publications

ADULT Phenotype and rs16864880 in the <i>TP63</i> Gene: Two New Cases and Review of the Literature.

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