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/...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: S. Karger AG 2017
Schlagworte:
Short Report
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge