Journal article
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Abstract
RASopathies are a class of genetic syndromes caused by germline mutations in genes encoding Ras/mitogen-activated protein kinase (Ras/MAPK) pathway components. Cardio-facio-cutaneous (CFC) syndrome is a RASopathy characterized by distinctive craniofacial features, skin and hair abnormalities, and congenital heart defects caused by activating mutations of BRAF, MEK1, MEK2, and KRAS. We define the phenotype of seven patients with de novo …
Authors
Nowaczyk MJM; Thompson BA; Zeesman S; Moog U; Sanchez‐Lara PA; Magoulas PL; Falk RE; Hoover‐Fong JE; Batista DAS; Amudhavalli SM
Journal
Clinical Genetics, Vol. 85, No. 2, pp. 138–146
Publisher
Wiley
Publication Date
February 2014
DOI
10.1111/cge.12116
ISSN
0009-9163