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Article

Clinical heterogeneity of NADSYN1 ‐associated VCRL syndrome

23 Mar 2023

Abstract excerpt

The NADSYN1 gene [MIM*608285] encodes the NAD synthetase 1 enzyme involved in the final step of NAD biosynthesis, crucial for cell metabolism and organ embryogenesis. Perturbating the role of NAD biosynthesis results in the association of vertebral, cardiac, renal, and limb anomalies (VCRL). This condition was initially characterized as severe with perinatal lethality or developmental delay and complex...

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PMID: 36951206
DOI: 10.1111/cge.14328

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