Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Reference34 articles.
1. PLA2G6-associated neurodegeneration;Gregory,1993
2. Infantile neuroaxonal dystrophy;Cowen;J Neuropathol Exp Neurol,1963
3. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron;Morgan;Nat Genet,2006
4. PLA2G6 mutation underlies infantile neuroaxonal dystrophy;Khateeb;Am J Hum Genet,2006
5. Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN);Kurian;Neurology,2008
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