QR-Code

Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations

Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within t...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Qianqian Guo, Jia Shen, Yang Liu, Tian Pu, Kun Sun, Sun Chen
Format: Artigo
Sprache:Inglês
Veröffentlicht: Cell Physiol Biochem Press GmbH & Co KG 2015-09-01
Schriftenreihe:Cellular Physiology and Biochemistry
Schlagworte:
Exome sequencing
Holt-Oram syndrome
Mutations
TBX5
Online-Zugang:http://www.karger.com/Article/FullText/430232
Tags: Tag hinzufügen
Keine Tags, Fügen Sie das erste Tag hinzu!

Ähnliche Einträge