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

European Journal of Human Genetics 2026 Open access

Read full text

Authors: Fatimah Albuainain, Myrrhe Venema, Rachel Schot, Gideon Huigen, Grazia M. S. Mancini, Tjakko J. van Ham, Tahsin Stefan Barakat

DOI: 10.1038/s41431-026-02023-y

Cited by: 1

References: 15

Fields of Study & Subjects

Genomics and Rare Diseases Congenital heart defects research Connective tissue disorders research

References 15