Publikacja naukowa 

Nowe przyczyny wad rozwojowych serca

Author(s): Massadeh, Salam

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.

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.


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