Absence of the cerebellar granular layer, mental retardation tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo‐renal‐cerebellar syndrome
1982; Wiley; Volume: 11; Issue: 4 Linguagem: Inglês
10.1002/ajmg.1320110403
ISSN1096-8628
AutoresAlasdair G. W. Hunter, S. Jurenka, Diane Thompson, Jane Evans, John M. Opitz,
Tópico(s)Biomedical Research and Pathophysiology
ResumoAmerican Journal of Medical GeneticsVolume 11, Issue 4 p. 383-395 Article Absence of the cerebellar granular layer, mental retardation tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo-renal-cerebellar syndrome A. G. W. Hunter MD, Corresponding Author A. G. W. Hunter MD Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaDepartment of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, KIH 8L1, CanadaSearch for more papers by this authorS. Jurenka, S. Jurenka Department of Paediatrics, The St. Amant Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorD. Thompson, D. Thompson Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorJ. A. Evans, J. A. Evans Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorJohn M. Opitz, John M. Opitz EditorSearch for more papers by this author A. G. W. Hunter MD, Corresponding Author A. G. W. Hunter MD Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaDepartment of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, KIH 8L1, CanadaSearch for more papers by this authorS. Jurenka, S. Jurenka Department of Paediatrics, The St. Amant Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorD. Thompson, D. Thompson Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorJ. A. Evans, J. A. Evans Department of Paediatrics, Health Sciences Children's Centre, Winnipeg, Manitoba, CanadaSearch for more papers by this authorJohn M. Opitz, John M. Opitz EditorSearch for more papers by this author First published: April 1982 https://doi.org/10.1002/ajmg.1320110403Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References Bois E, Royer P (1970): Association de néphropathie tubulo-interstitielle chronique et de dégénérescence tapeto-rétinienne. Arch Fr Pediatr 27: 471–481. CASPubMedWeb of Science®Google Scholar Dekaban AS (1969): Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. 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