A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly
Author:
Publisher
Elsevier BV
Subject
Cardiology and Cardiovascular Medicine
Reference27 articles.
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2. Using the TBX5 transcription factor to grow and sculpt the heart;Hatcher;Am J Med Genet A,2006
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4. The developmental genetics of congenital heart disease;Bruneau;Nature,2008
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3. A novel missense mutation in the TBX5 gene in a Saudi infant with Holt-Oram syndrome;Saudi Medical Journal;2015-08
4. Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications;Gene;2015-04
5. Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations;Cellular Physiology and Biochemistry;2015
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