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Title: NRAS Mutations in Noonan Syndrome
Authors: Denayer, Ellen
Peeters, Hilde
Sevenants, L
Derbent, M
Fryns, Jean-Pierre
Legius E, Eric # ×
Issue Date: Jun-2012
Publisher: S. Karger AG
Series Title: Molecular Syndromology vol:3 issue:1 pages:34-38
Abstract: Noonan syndrome is a genetically heterogeneous disorder caused by mutations in PTPN11, SOS1, RAF1 and less frequently in KRAS, NRAS or SHOC2. Here, we performed mutation analysis of NRAS and SHOC2 in 115 PTPN11, SOS1, RAF1, and KRAS mutation-negative individuals. No SHOC2 mutations were found, but we identified 3 NRAS mutations in 3 probands. One NRAS mutation was novel. The phenotype associated with germline NRAS mutations is variable. Our results confirm that a small proportion of Noonan syndrome patients carry germline NRAS mutations.
URI: 
ISSN: 1661-8769
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
× corresponding author
# (joint) last author

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