Condition: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
rs104894158
in
EGR2
gene and
NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
PMID 9537424
1998 Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
PMID 22522483
2012 Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy.