R5
R5: Mosaicism should be considered in individuals with CdLS in whom a variant in a gene known to cause CdLS cannot be detected in blood cells, in which case other tissues such as fibroblasts (skin), buccal (cheek) cells or bladder epithelial cells from urine should be studied.
Last modified by Gerritjan Koekkoek on 2020/03/13 09:24
Created by Gerritjan Koekkoek on 2019/03/27 15:09
