Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur

Rodney K. Beals; Richard G. Weleber

doi:10.1002/ajmg.a.31948

Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur

Rodney K. Beals, Richard G. Weleber

Ophthalmology

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Abstract

Conorenal dysplasia is a rare sydrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases.

Original language	English (US)
Pages (from-to)	2444-2447
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	143
Issue number	20
DOIs	https://doi.org/10.1002/ajmg.a.31948
State	Published - Oct 15 2007

Keywords

Cone-shaped epiphysis
Renal disease
Retinitis pigmentosa

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.31948

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abstract = "Conorenal dysplasia is a rare sydrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases.",

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AU - Weleber, Richard G.

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AB - Conorenal dysplasia is a rare sydrome which includes cone shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal physis and metaphysis of the femur. A long term followup of one patient is presented along with a review of the reported cases.

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KW - Retinitis pigmentosa

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Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur

Abstract

Keywords

ASJC Scopus subject areas

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