Autor: Fatimah Albuainain
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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-yTwo siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature
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Confirmation and expansion of the phenotype of the <i>TCEAL1</i>-related neurodevelopmental disorder
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01530-6Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder