Vertebral, cardiac, renal, and limb defects syndrome

Definition:

Vertebral, cardiac, renal, and limb defects syndrome (VCRL) is an autosomal recessive congenital malformation syndrome. It has been reported that disruption of nicotinamide adenine dinucleotide (NAD) synthesis causes a deficiency of NAD and congenital malformations in humans and mice.

References:

[1]. Hongjun Shi, et al. NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552. [Content Brief]

[2]. Justin O Szot, et al. Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. Am J Hum Genet. 2020 Jan 2;106(1):129-136. [Content Brief]

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