Condition: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
rs398123011
in
SNX10
gene and
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
PMID 23280965
2013 SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
PMID 22499339
2012 An SNX10 mutation causes malignant osteopetrosis of infancy.
PMID 23123320
2013 Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.