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Lomuscio S, Russo F, Micale L, Castori M, et al. Brachydactyly Type A2 as A Presenting Feature of NADSYN1-Related Congenital NAD Deficiency Disorder. Am J Med Genet A 2026 Oct 22. doi: 10.1002/ajmg.a.70339.
PMID: 42919443


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