2016 Kollmann

Excerpt

Collagen IV-related diseases affect the basement membrane and can be caused by COL4A1 or COL4A2 gene mutations. The phenotypic expression seems to be similar in both and encompass porencephaly, small-vessel disease, ocular involvement, peripheral myopathy, and kidney disease.

File Download: 2016 Kollmann

Publish Date: 13 September 2016

Gould Syndrome Foundation