Clinical impact and in vitro characterization of ADNP variants in pediatric patients

ConclusionsOur study reported the first cohort of HVDAS patients in the Chinese population and provided systematic clinical presentations and laboratory examinations. Furthermore, we identified multiple genetic variants and validated them in vitro. Our findings offered valuable insights into the diverse genetic variants associated with HVDAS.
Source: Molecular Autism - Category: Molecular Biology Source Type: research