Leber's Congenital Amaurosis Associated with Familial Juvenile Nephronophthisis and Cone-Shaped Epiphyses of the Hands (the Saldino-Mainzer Syndrome)
- 1 February 1984
- journal article
- research article
- Published by Elsevier in American Journal of Ophthalmology
- Vol. 97 (2), 233-239
- https://doi.org/10.1016/s0002-9394(14)76095-7
Abstract
No abstract availableThis publication has 20 references indexed in Scilit:
- Absence of the cerebellar granular layer, mental retardation tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo‐renal‐cerebellar syndromeAmerican Journal of Medical Genetics, 1982
- Familial juvenile nephronophthisis and associated ocular anomalies (Senior's syndrome). A study of three familiesOphthalmic Paediatrics and Genetics, 1982
- Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.Journal of Medical Genetics, 1981
- Retinal manifestations in familial juvenile nephronophthisisClinical Genetics, 1979
- Juvenile nephronophthisis associated with retinal pigmentary dystrophy, cerebellar ataxia, and skeletal abnormalities.Archives of Disease in Childhood, 1976
- Peripheral dysostosis associated with juvenile nephronophthisisThe British Journal of Radiology, 1975
- Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalitiesAmerican Journal Of Medicine, 1970
- Retinal Atrophy in OsteopetrosisArchives of Ophthalmology (1950), 1968
- Nephronophthisis and medullary cystic diseaseAmerican Journal Of Medicine, 1967
- Hereditary Renal Dysplasia and BlindnessActa Paediatrica, 1961