Familial and multiple pulmonary arteriovenous malformationsGene: SOX18
Pathogenic variants in SOX18 cause hypotrichosis-lymphedema-telangiectasia syndrome. “Telangiectasia" is simply a descriptive term for small dilated blood (or lymphatic) vessels. There appears to be no phenotypic overlap with hereditary haemorrhagic telangiectasia which is commonly associated with pulmonary arteriovenous malformations. I am not aware that SOX18 has been shown to be associated with pulmonary arteriovenous malformations.
Created: 13 Nov 2016, 11:36 p.m.
SOX18 was created by ellenmcdonagh
SOX18 was added to Familial and multiple pulmonary arteriovenous malformationspanel. Sources: Radboud University Medical Center, Nijmegen