Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference16 articles.
1. Genotype–phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum;Girirajan;Genet. Med.,2006
2. Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome;Goh;Am. J. Med. Genet.,2012
3. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-β signaling? signaling;Hong;Mol. Cancer,2010
4. Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families;Houweling;Br. J. Cancer,2011
5. The Birt–Hogg–Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis;Kriti;Hum. Mol. Genet.,2013
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1. Ragopathies and the rising influence of RagGTPases on human diseases;Nature Communications;2024-07-10
2. A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene;Journal of International Medical Research;2023-09
3. A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening;American Journal of Medical Genetics Part A;2022-12-13
4. Frequency of truncating FLCN variants and Birt-Hogg-Dubé–associated phenotypes in a health care system population;Genetics in Medicine;2022-09
5. Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders;Genes;2022-02-11
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