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

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/...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Syndromol
Main Authors: Kawasaki de Araujo, Tânia, Lustosa-Mendes, Elaine, dos Santos, Ana P., Coelho Molck, Miriam, Mazzariol Volpe-Aquino, Roberta, Gil-da-Silva-Lopes, Vera L.
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2017
Teme:
Short Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498955/
https://ncbi.nlm.nih.gov/pubmed/28690486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000470025
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki