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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Orphanet J Rare Dis
मुख्य लेखकों: Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2016
विषय:
Letter to the Editor
ऑनलाइन पहुंच: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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