Condition: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
rs587777128
in
WWOX
gene and
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
PMID 24456803
2014 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.
PMID 24369382
2014 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PMID 25411445
2015 WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
rs587777127
in
WWOX;MAF
gene and
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
PMID 24369382
2014 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
PMID 24456803
2014 The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.