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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Foilsithe in:Orphanet J Rare Dis
Main Authors: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
Formáid: Artigo
Teanga:Inglês
Foilsithe: BioMed Central 2016
Ábhair:
Letter to the Editor
Rochtain Ar Líne: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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