Article
[Holt-Oram syndrome: study of 7 cases].
Medicina clinica - 13 Nov 2010
Martínez-García Mónica, Lorda-Sanchez Isabel, García-Hoyos Maria, Ramos Carmen, Ayuso Carmen, Trujillo-Tiebas María José
Abstract excerpt
UNLABELLED: FUNDAMENTAL AND OBJECTIVE: Holt-Oram syndrome (HOS) is a heart-hand disease with an autosomal dominant inheritance pattern. About 85% of the affected patients present de novo mutations in the TBX5 gene. The aim of this study is to propose a molecular strategy to diagnose patients with clinical suspicion of HOS. PATIENTS AND METHODS: A sequence analysis of 7 patients from exon 2 to exon 8 of the TBX5...
Topics
- Abnormalities, Multiple
- Acrocephalosyndactylia
- DNA Mutational Analysis
- Exons
- Genetic Heterogeneity
- Heart Defects, Congenital
- Heart Septal Defects, Atrial
- Humans
- Kruppel-Like Transcription Factors
- Lower Extremity Deformities, Congenital
- Mutation, Missense
- Nerve Tissue Proteins
- Phenotype