ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.
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ABSTRACT:
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 <i>TP63</i> 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 <i>TP63</i> 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 <i>TP63</i> gene, which was not present in their parents. The role of this variant in the genesis of this condition is discussed, based up ...[more]
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