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Journal article

NAD deficiency, congenital malformations and niacin supplementation

Abstract:
Background Congenital malformations can manifest as combinations of phenotypes that co-occur more often than expected by chance. In many such cases it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral and renal defects, amongst others, in four unrelated patients. Methods Genomic sequencing was used to identify potentially pathogenic gene variants in four families. The variants were functionally tested using i... Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1056/NEJMoa1616361

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Publisher:
Massachusetts Medical Society Publisher's website
Journal:
New England Journal of Medicine Journal website
Volume:
377
Pages:
544-552
Publication date:
2017-08-10
Acceptance date:
2017-05-11
DOI:
EISSN:
1533-4406
ISSN:
0028-4793
Pubs id:
pubs:695452
URN:
uri:ebf539ae-44df-4d43-ba5c-9c9f5098f519
UUID:
uuid:ebf539ae-44df-4d43-ba5c-9c9f5098f519
Local pid:
pubs:695452

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