Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome.

Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. Research Abstract Details 

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Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. Abstract Text:

Renzo A Zaldivar,Matthew D Neale,William E Evans,Jose S Pulido,

Retinitis pigmentosa represents a class of disorders that exhibit dystrophy of the photoreceptors, pigment epithelium, and often systemic abnormalities, Bardet-Biedl syndrome is a form of retinitis pigmentosa that has characteristic non-ocular findings including polydactyly, obesity, learning difficulties, male hypogonadism, and renal anomalies. Though none of these renal anomalies are neoplastic, there is a 17 fold increased risk for renal cell carcinoma in obligate carriers of Bardet-Biedl syndrome. Herein, we describe a case of metastatic renal cell carcinoma discovered in a patient with Bardet-Biedl syndrome.

Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. Publishing Authors By Initials

RA Zaldivar,MD Neale,WE Evans,JS Pulido,

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Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Ophthalmic genetics

VOLUME: 29

Page Numbers: 33-5

Journal Abbreviation: Ophthalmic Genet.

ISSN: 1744-5094

DAY: 25

MONTH: Mar

YEAR: 2008

Asymptomatic renal cell carcinoma as a finding of Bardet Biedl syndrome. Information

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LANGUAGE: eng

NlmUniqueID: 9436057

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AFFILIATION: Mayo Clinic Department of Ophthalmology, Rochester, Minnesota 55905, USA.

Country: England

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MEDLINETA: Ophthalmic Genet

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