Ontology highlight
ABSTRACT:
SUBMITTER: Delea M
PROVIDER: S-EPMC6162499 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Delea Marisol M Espeche Lucía D LD Bruque Carlos D CD Bidondo María Paz MP Massara Lucía S LS Oliveri Jaen J Brun Paloma P Cosentino Viviana R VR Martinoli Celeste C Tolaba Norma N Picon Claudina C Ponce Zaldua María Eugenia ME Ávila Silvia S Gutnisky Viviana V Perez Myriam M Furforo Lilian L Buzzalino Noemí D ND Liascovich Rosa R Groisman Boris B Rittler Mónica M Rozental Sandra S Barbero Pablo P Dain Liliana L
Genes 20180911 9
Congenital conotruncal heart defects (CCHD) are a subset of serious congenital heart defects (CHD) of the cardiac outflow tracts or great arteries. Its frequency is estimated in 1/1000 live births, accounting for approximately 10⁻30% of all CHD cases. Chromosomal abnormalities and copy number variants (CNVs) contribute to the disease risk in patients with syndromic and/or non-syndromic forms. Although largely studied in several populations, their frequencies are barely reported for Latin America ...[more]