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.