A diagnosis of <scp>Birt–Hogg–Dubé</scp> syndrome in individuals with <scp>Smith–Magenis</scp> syndrome: Recommendation for cancer screening-Reference-Cited by-同舟云学术

A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening

Published:2022-12-13 Issue:2 Volume:191 Page:490-497
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Vocke Cathy D.¹,Fleming Leah R.²³^ORCID,Piskorski Anna M.⁴,Amin Ali⁴,Phornphutkul Chanika⁵,de la Monte Suzanne⁴,Vilboux Thierry²⁶,Duncan Folami²⁷,Pellegrino Joan⁸,Braddock Bonnie⁸,Middelton Lindsay A.¹,Schmidt Laura S.¹⁹,Merino Maria J.¹⁰,Cowen Edward W.¹¹,Introne Wendy J.²,Linehan W. Marston¹,Smith Ann C. M.²^ORCID

Affiliation:

1. Urologic Oncology Branch, Center for Cancer Research National Cancer Institute, NIH Bethesda Maryland USA

2. Office of the Clinical Director National Human Genome Research Institute, NIH Bethesda Maryland USA

3. Department of Genetics Saint Luke's Genetics and Metabolic Clinic Boise Idaho USA

4. Department of Pathology Warren Alpert Medical School of Brown University Providence Rhode Island USA

5. Division of Human Genetics, Department of Pediatrics Warren Alpert Medical School of Brown University Providence Rhode Island USA

6. Medical Genetics Branch National Human Genome Research Institute, NIH Bethesda Maryland USA

7. Department of Pediatric Emergency Medicine Johns Hopkins Children's Center Baltimore Maryland USA

8. Medical Genetics Upstate Medical University Syracuse New York USA

9. Basic Science Program Frederick National Laboratory for Cancer Research Frederick Maryland USA

10. Laboratory of Pathology Center for Cancer Research National Cancer Institute, NIH Bethesda Maryland USA

11. Dermatology Branch National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH Bethesda Maryland USA

Funder

National Institutes of Health

Brown University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63049

Reference29 articles.

1. Familial Renal Cancer: Molecular Genetics and Surgical Management

2. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome

3. RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

4. Bilateral renal tumors in an adult man with Smith-Magenis syndrome: The role of the FLCN gene

5. The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma

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