Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

RAS/MAPK pathway germline mutations were described in Rasopathies, a class of rare genetic syndromes combining facial abnormalities, heart defects, short stature, skin and genital abnormalities, and mental retardation. The majority of the mutations identified in the Rasopathies are point mutations w...

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Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2016
Témata:
Letter to the Editor
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4957908/
https://ncbi.nlm.nih.gov/pubmed/27450488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0479-y
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