American Journal of Medical Genetics Part A· 2026Q2
Brachydactyly Type A2 as A Presenting Feature of NADSYN1 ‐Related Congenital NAD Deficiency Disorder
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- Q2SCImago
- 2026year
Short summary
A novel NADSYN1 variant (VCV000834710.57) presents as brachydactyly type A2, indicating a previously unrecognized clinical manifestation of congenital NAD deficiency disorder.
AI-generated from the title and abstract; the full text is not read.
Key points
- A novel NADSYN1 variant is identified.
- This variant presents clinically as brachydactyly type A2.
- This represents a new clinical manifestation of congenital NAD deficiency disorder.
AI-generated from the title and abstract; the full text is not read.
Abstract
The data supporting the findings of this report are available from the corresponding author upon reasonable request, subject to patient privacy restrictions. The NADSYN1 variant described in this study is already publicly available in ClinVar (accession VCV000834710.57).
The authors' abstract, as published at the source. American Journal of Medical Genetics Part A, 2026 · DOI ↗
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Developmental BiologyBiochemistry, Genetics and Molecular Biology