Clinical and molecular spectra of BRAF-associated RASopathy
Clinical and molecular spectra of BRAF-associated RASopathy
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England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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Contents
Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome are the most common subtypes of RASopathy. As an effector of Ras, BRAF is one of the molecules responsible for RASopathy. We investigated the phenotypic and genotypic features of 26 patients with BRAF-associated RASopathy. The clinical diagnoses were CFC (n = 21, 80.8%), NS (n = 3, 11.5...
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Clinical and molecular spectra of BRAF-associated RASopathy
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TN_cdi_proquest_miscellaneous_2449992579
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2449992579
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-020-00852-3
