Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence
Author:
Funder
NIH
UK Medical Research Council
Lucille van Geest Foundation
Publisher
Elsevier BV
Subject
Developmental Neuroscience,Neurology
Reference53 articles.
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4. Genetics of neuromuscular fetal akinesia in the genomics era;Beecroft;J. Med. Genet.,2018
5. NMNAT: It's an NAD(+) synthase... It's a chaperone... It's a neuroprotector;Brazill;Curr. Opin. Genet. Dev.,2017
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