present in Gene: ANTXR2
present in Chromosome: 4
Position on Chromosome: 79983915
Alleles of this Variant: T/A;C
rs137852901 in
ANTXR2 gene and
Hyalinosis, Systemic
PMID 15725249 2005 Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.
PMID 14508707 2003 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
PMID 12973667 2003 Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.