Absence of the cerebellar granular layer, mental retardation tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo‐renal‐cerebellar syndrome
- 1 April 1982
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 11 (4) , 383-395
- https://doi.org/10.1002/ajmg.1320110403
Abstract
No abstract availableThis publication has 16 references indexed in Scilit:
- Defect of cerebellar Purkinje cell histogenesis associated with type I and type II renal cystic diseaseActa Neuropathologica, 1977
- Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalitiesThe American Journal of Medicine, 1970
- Hereditary Syndrome of Congenital Retinal Blindness (Leber), Polycystic Kidneys and Maldevelopment of the BrainAmerican Journal of Ophthalmology, 1969
- Medullary cystic disease in two siblingsThe American Journal of Medicine, 1967
- Familial nephropathy with retinitis pigmentosaThe American Journal of Medicine, 1965
- Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge KidneyBMJ, 1963
- Juvenile Familial Nephropathy with Tapetoretinal Degeneration*American Journal of Ophthalmology, 1961
- Hereditary Renal Dysplasia and BlindnessActa Paediatrica, 1961
- Ein Fall von primärer systematischer Kleinhirnrindenatrophie vom Körnertypus bei familiärem konnatalem Kleinhirnsyndrom (Norman, Jervis, Ule)Zeitschrift für Neurologie, 1961
- EARLY FAMILIAL CEREBELLAR DEGENERATION*Journal of Nervous & Mental Disease, 1950