A novel TBX1 missense mutation in patients with syndromic congenital heart defects
Author:
Funder
The Ministry of Higher Education and Scientific Research of Tunisia
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference30 articles.
1. Genomic imbalances in syndromic congenital heart disease;Molck;J. Pediatr (Rio J.),2017
2. Congenital heart disease among spontaneousabortuses and stillborn fetuses: prevalence and associations;Chinn;Teratology,1989
3. Minimum prevalence of chromosome 22q11 deletions;Wilson;Am. J. Hum. Genet. Suppl.,1994
4. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes;Cuneo;Curr. Opin. Pediatr.,2001
5. 22q11 deletion syndrome: current perspective;Hacıhamdioğlu;Appl. Clin. Genet.,2015
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