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Novel Causes for Heart Malformations

Salam Massadeh et al.
May 19, 2020

ADAMTS19-associated Heart Valve Defects: Novel Genetic Variants Consolidating a Recognizable Cardiac Phenotype

An ever-increasing number of genes have been linked to heart malformations. For ADAMTS19, the most recent addition to this list, a querying of CENTOGENE’s well-curated database - CentoMD® - identified three patients that carry three different pathogenic variants. This genetic spectrum, along with a detailed clinical characterization, was described in the European Journal of Human Genetics.