(Q71267826)

English

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)

scientific article published on 01 February 1984

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scholarly article

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17 October 2019

Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome) (English)

1 reference

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17 October 2019

Juvenile nephronophthisis

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D L Rimoin

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17 October 2019

Ralph S. Lachman

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R S Lachman

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17 October 2019

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D S Ellis

1

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17 October 2019

J R Heckenlively

2

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17 October 2019

C L Martin

3

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17 October 2019

N A Sakati

5

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17 October 2019

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publication date

1 February 1984

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17 October 2019

American Journal of Ophthalmology

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17 October 2019

97

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17 October 2019

2

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17 October 2019

233-239

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17 October 2019

Nephronophthisis and medullary cystic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Medullary Cystic Disease and Familial Juvenile Nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Juvenile Familial Nephropathy with Tapetoretinal Degeneration*

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Hereditary renal dysplasia and blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Cone-Shaped Epiphyses (CSE) in Siblings with Hereditary Renal Disease and Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Retinal manifestations in familial juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Familial juvenile nephronophthisis and associated ocular anomalies (Senior's syndrome). A study of three families

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Roentgenographic manifestations of hereditary peripheral dysostosis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Retinal atrophy in osteopetrosis

1 reference

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7 January 2021

Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Neutral lipid storage with acid lipase deficiency: a new variant of Wolman's disease with features of the Senior syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Peripheral dysostosis associated with juvenile nephronophthisis

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Tapetoretinal degeneration associated with recessively inherited medullary cystic disease

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2814%2976095-7

7 January 2021

Identifiers

10.1016/S0002-9394(14)76095-7

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Europe PubMed Central

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17 October 2019

1 reference

Europe PubMed Central

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17 October 2019

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