Publication details
Rapid mutational analysis of RASopathy related genes in prenatal diagnosis - our first experience
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Year of publication | 2018 |
Type | Conference abstract |
MU Faculty or unit | |
Citation | |
Description | RASopathies represent a group of syndromes (e.g. Noonan, Costello, Cardio-Facio-Cutaneous, Legius and LEOPARD syndrome, neurofibromatosis 1 and 2 etc.) caused by mutations in genes encoding components of the signaling RAS/MAPK pathway. While postnatal symptoms of these conditions are well described, the prenatal features are more difficult to clearly determine. Reported are prenatal cases with indication of suspected RASopathy. |