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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Orphanet J Rare Dis
Päätekijät: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2016
Aiheet:
Letter to the Editor
Linkit: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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