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.
Zuletzt geändert von Gerritjan Koekkoek am 2020/03/13 09:24
Erstellt von Gerritjan Koekkoek am 2019/03/27 15:09
