Condition: VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
rs387906745
in
TEK
gene and
VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL
PMID 10369874
1999 Allelic and locus heterogeneity in inherited venous malformations.
PMID 8980225
1996 Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
PMID 19888299
2010 Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
PMID 19079259
2009 Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.