Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
Open Access
- 21 January 2009
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 17 (6), 733-740
- https://doi.org/10.1038/ejhg.2008.256
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Germline gain-of-function mutations in RAF1 cause Noonan syndromeNature Genetics, 2007
- Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyNature Genetics, 2007
- Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndromeAmerican Journal of Medical Genetics Part A, 2007
- Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndromeAmerican Journal of Medical Genetics Part A, 2007
- Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogeneJournal of Pediatric Hematology/Oncology, 2007
- Hyperactive Ras in developmental disorders and cancerNature Reviews Cancer, 2007
- Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndromeAmerican Journal of Medical Genetics Part A, 2007
- Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndromeNature Genetics, 2006
- The MEK/ERK cascade: From signaling specificity to diverse functionsBiochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006
- Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome PhenotypeAmerican Journal of Human Genetics, 2006