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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Letter to the Editor
Online adgang: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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