Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion-Reference-Cited by-同舟云学术

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Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion

Published:2017-06-16 Issue:1 Volume:17 Page:135-139
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Schneider Meike,Dinkelborg Katja,Xiao Xiuli,Chan-Smutko Gayun,Hruska Kathleen,Huang Dongli,Sagar Pallavi,Harisinghani Mukesh,Iliopoulos Othon

Funder

Deutsche Krebshilfe

Boehringer Ingelheim Fonds

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics(clinical),Oncology,Genetics

Link

http://link.springer.com/article/10.1007/s10689-017-0008-8/fulltext.html

Reference25 articles.

1. Birt AR, Hogg GR, Dube WJ (1977) Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol 113:1674–1677

2. Toro JR, Wei MH, Glenn GM et al (2008) BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports. J Med Genet 45:321–331

3. Kunogi M, Kurihara M, Ikegami TS et al (2010) Clinical and genetic spectrum of Birt-Hogg-Dube syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature. J Med Genet 47:281–287

4. Benusiglio PR, Giraud S, Deveaux S et al (2014) Renal cell tumour characteristics in patients with the Birt-Hogg-Dube cancer susceptibility syndrome: a retrospective, multicentre study. Orphanet J Rare Dis 9:163

5. Schmidt LS, Nickerson ML, Warren MB et al (2005) Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome. Am J Hum Genet 76:1023–1033

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1. ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome;European Journal of Human Genetics;2024-07-31

2. Diagnosis of Renal Tumors in Birt-Hogg-Dube Syndrome: Clinical Presentation and Risk Factors in a Single-center Retrospective Cohort;2024-07-26

3. Metastatic disease after removal of a renal cell carcinoma smaller than 3 cm in a patient with Birt-Hogg-Dubé syndrome, a case report;Familial Cancer;2024-06-20

4. A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions;Familial Cancer;2024-06-01

5. Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma;European Urology Open Science;2024-04

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