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Open access
Jan 2026
Exome Sequencing and MRI in Prenatal Diagnosis: A Case Report of Joubert Syndrome in Colombia
Objective To report the prenatal diagnosis of CSPP1‐related Joubert Syndrome 21 (JS21) in a fetus with multiple congenital anomalies, highlighting the complementary role of detailed neuroimaging and molecular genetic testing. Methods A fetus with suspected central nervous system anomalies underwent detailed prenatal ul...
Walter Annicchiarico, Leidy Ximena Peña-Pardo, Andrea Muñiz Redondo et al.
· Case Reports in Genetics · 0 citations