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Paper Details

Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies.
Am J Med Genet A
8
2022
Children, Congenital nicotinamide adenine dinucleotide (NAD) deficiency disorders, HAAO, HLHS, KYNU, NAD, NAD deficiency disorders, NADSYN1, VACTERL, VATER, VATER/VACTERL association, VATER/VACTERL) association, aortic arch abnormalities, aortic coarctation, cardiac and vertebral anomalies, cardiac and vertebral defects, children, congenital anomalies, developmental delays, hypoplastic left heart syndrome, intellectual disability, limb anomalies, nicotinamide adenine dinucleotide, patient, patients, premature death, renal anomalies, transverse hypoplasia of the aortic arch, vertebral, anal, cardiac, tracheoesophageal, radial and renal, and limb anomalies
Author NameAffiliation
Anne SlavotinekUniversity of California San Francisco
Anne SlavotinekUniversity of California San Francisco
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Release 1.2