Two siblings with <i>CCDC32</i>-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature

European Journal of Human Genetics, Published online: 04 February 2026; doi:10.1038/s41431-026-02023-y

Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature