Condition: Hyalinosis, Systemic


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.

PMID 12973667 2003 The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein.

PMID 12973667 2003 The JHF family-specific homoallelic missense mutation G105D destabilizes a von Willebrand factor A extracellular domain alpha-helix, whereas the other mutation, L329R, occurs within the transmembrane domain of the protein.

PMID 12973667 2003 An ISH compound mutation, I189T, is predicted to create a novel and destabilizing internal cavity within the protein.

PMID 23386947 2013 Infantile systemic hyalinosis: a case report with a novel mutation.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.