Information

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.

Page history
Modifié par Gerritjan Koekkoek le 2020/03/13 09:24
Créé par Gerritjan Koekkoek le 2019/03/27 15:09

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