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Vertebral, cardiac, renal and limb defects

Disease

1 paper studies it

Latest

European Journal of Medical Genetics·Jan 14

Adult patient diagnosed with NADSYN1 associated congenital NAD deficiency and analysis of NAD levels to be published in: European Journal of Medical Genetics

Case reportInterventions
Paper

Related

  • NAD+1
  • NAD+ metabolism1
  • NAD+ precursors1
  • NADSYN11
  • Aortic valve stenosis1
  • Asymmetric dysmorphic facial features1
  • Bicuspid aortic valve1
  • Cleft palate1
  • Congenital NAD+ deficiency disorder1
  • Nicotinamide1
  • Ptosis1
  • Rib anomalies1
  • Segmentation defects of the spine1
  • Skeletal malformations1
  • Unequal leg length1
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