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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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التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Orphanet J Rare Dis
المؤلفون الرئيسيون:	Gilbert-Dussardier, Brigitte, Briand-Suleau, Audrey, Laurendeau, Ingrid, Bilan, Frédéric, Cavé, Hélène, Verloes, Alain, Vidaud, Michel, Vidaud, Dominique, Pasmant, Eric
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BioMed Central 2016
الموضوعات:	Letter to the Editor
الوصول للمادة أونلاين:	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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Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities

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