Rapid mutational analysis of RASopathy related genes in prenatal diagnosis - our first experience

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F18%3A00113653" target="_blank" >RIV/00216224:14310/18:00113653 - isvavai.cz</a>
Result on the web
<a href="https://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5ceff91c-a4bf-4aba-bcc0-877da2315b85&cKey=e5d7aeeb-759b-4bf4-b6f3-73ea42778073&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f" target="_blank" >https://www.abstractsonline.com/Plan/ViewAbstract.aspx?sKey=5ceff91c-a4bf-4aba-bcc0-877da2315b85&cKey=e5d7aeeb-759b-4bf4-b6f3-73ea42778073&mKey=15a3630e-7769-4d64-a80a-47f190ac2f4f</a>
DOI - Digital Object Identifier
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Result language
angličtina
Original language name
Rapid mutational analysis of RASopathy related genes in prenatal diagnosis - our first experience
Original language 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.
Czech name
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Czech description
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Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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