Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.
作者信息
Hunter A G, Jurenka S, Thompson D, Evans J A
出版信息
Am J Med Genet. 1982 Apr;11(4):383-95. doi: 10.1002/ajmg.1320110403.
PMID:7091183
Abstract
摘要
相似文献
1
Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: an autosomal recessive oculo-renal-cerebellar syndrome.小脑颗粒层缺失、智力发育迟缓、视网膜色素变性和进行性肾小球病：一种常染色体隐性眼-肾-小脑综合征。
Am J Med Genet. 1982 Apr;11(4):383-95. doi: 10.1002/ajmg.1320110403.
2
The syndrome of retinal pigmentary degeneration, microcephaly, and severe mental retardation (Mirhosseini-Holmes-Walton syndrome): report of two patients.视网膜色素变性、小头畸形和严重智力障碍综合征（米尔霍塞尼-霍姆斯-沃尔顿综合征）：两例患者报告
Am J Med Genet. 1985 Oct;22(2):223-8. doi: 10.1002/ajmg.1320220202.
3
Cerebro-reno-digital syndrome in two sibs.
Am J Med Genet. 1993 Sep 1;47(3):420-2. doi: 10.1002/ajmg.1320470325.
4
Clinical features of the Lesch-Nyhan syndrome. Introduction--clinical and genetic features.莱施-奈恩综合征的临床特征。引言——临床和遗传特征。
Fed Proc. 1968 Jul-Aug;27(4):1027-33.
5
[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].肾痨、视网膜色素变性、脑病和小脑蚓部发育不全：一种新的关联。关于3例家族性病例
Ann Pediatr (Paris). 1989 Feb;36(2):126-31.
6
[Renal function disorders in congenital metabolic abnormalities. 2. Renal function disorders in Lowe's and de Toni-Fanconi syndrome].[先天性代谢异常中的肾功能障碍。2. 洛氏综合征和德托尼 - 范科尼综合征中的肾功能障碍]
Nihon Shonika Gakkai Zasshi. 1971 Jun;75(6):464-75.
7
[Nephronophthisis associated with mental retardation, cerebellar improvement and choreoathetosis. Description of 2 cases].[肾痨合并智力发育迟缓、小脑功能改善及舞蹈手足徐动症。2例报告]
Rev Clin Esp. 1982 Jan 31;164(2):135-7.
8
Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.
Am J Med Genet. 1991 Nov 1;41(2):196-200. doi: 10.1002/ajmg.1320410213.
9
Senior-Loken syndrome in an Iranian family.一个伊朗家庭中的Senior-Loken综合征。
Saudi J Kidney Dis Transpl. 2010 Jul;21(4):735-7.
10
[Oculo-reno-cerebellar syndrome].眼-肾-小脑综合征
Ryoikibetsu Shokogun Shirizu. 2001(34 Pt 2):356-7.
引用本文的文献
1
New familial nephropathy involving glomerular and tubular basement membranes.
Pediatr Nephrol. 1994 Oct;8(5):584-6. doi: 10.1007/BF00858133.
2
Hereditary renal and retinal dysplasia--the Senior-Loken syndrome.遗传性肾视网膜发育不良——Senior-Loken综合征
Ulster Med J. 1987 Oct;56(2):160-2.
Zotero 插件