Craniosynostosis and Noonan syndrome withKRASmutations: Expanding the phenotype with a case report and review of the literature
Author:
Affiliation:
1. Medical Genetics Branch, National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland
2. Center of Medical Genetics; Sir Ganga Ram Hospital; New Delhi India
Funder
National Human Genome Research Institute
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37259/fullpdf
Reference56 articles.
1. Epilepsy in RAS/MAPK syndrome: Two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review;Adachi;Seizure,2012
2. Allanson JE Roberts AE. 2001 http://www.ncbi.nlmnih.gov/books/NBK1124/
3. Noonan syndrome;Allanson;Am J Med Genet Part C,2007
4. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;Am J Hum Genet,2013
5. Further evidence of genetic heterogeneity in Costello syndrome: Involvement of the KRAS gene;Bertola;J Hum Genet,2007
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1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis;European Journal of Human Genetics;2024-06-01
2. Noonan syndrome‐like phenotype associated with an ERF frameshift variant;American Journal of Medical Genetics Part A;2024-05-14
3. Molecular study of KRAS mutations in Iraqi patients with gastrointestinal tract cancer;Review of Clinical Pharmacology and Pharmacokinetics - International Edition;2024-05-05
4. Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes;Frontiers in Endocrinology;2023-10-27
5. Prenatal and infantile diagnosis of craniosynostosis in individuals with RASopathies;American Journal of Medical Genetics Part A;2023-09-29
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