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Biallelic Variant in NRDC Gene in Two Siblings With Developmental Delay and Seizures
Fatemeh Fatehi1, Zeinab Ghorbanoghli1, Mahdieh Kooshki1
1Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
A likely pathogenic variant in the NRDC gene was found in siblings with severe neurodevelopmental disorders. This finding supports NRDC
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- Neurodevelopmental disorders (NDDs) are complex genetic conditions.
- The NRDC gene's role in human neurodevelopment is not fully understood.
- Biallelic variants in NRDC have been rarely associated with NDDs.
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