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Joubert syndrome with polydactyly and optic coloboma in two sibs.

作者信息

Kher A S, Chattopadhyay A, Divekar A, Khambekar K, Bharucha B A

机构信息

Department of Pediatrics, Seth G.S. Medical College & KEM Hospital, Parel, Bombay.

出版信息

Indian J Pediatr. 1994 Nov-Dec;61(6):729-32. doi: 10.1007/BF02751991.

DOI:10.1007/BF02751991
PMID:7721382
Abstract
摘要

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1
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[Neuroradiological aspects of Joubert syndrome: an analysis of two cases].[儒贝综合征的神经放射学表现:两例分析]
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引用本文的文献

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Molecular Evaluation of Joubert Syndrome and Hearing Impairment in a Patient with Ataxic Cerebral Palsy.一名共济失调型脑瘫患者的Joubert综合征与听力障碍的分子评估
Glob Med Genet. 2023 Jul 17;10(3):190-193. doi: 10.1055/s-0043-1771184. eCollection 2023 Sep.
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Mutation spectrum of Joubert syndrome and related disorders among Arabs.阿拉伯人群中Joubert综合征及相关疾病的突变谱
Hum Genome Var. 2014 Nov 6;1:14020. doi: 10.1038/hgv.2014.20. eCollection 2014.
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Medical genetics and genomic medicine in India: current status and opportunities ahead.

本文引用的文献

1
The Joubert syndrome associated with bilateral chorioretinal coloboma.与双侧脉络膜视网膜缺损相关的乔伯特综合征。
Eur J Pediatr. 1980 Aug;134(2):173-6. doi: 10.1007/BF01846041.
2
Joubert-Boltshauser syndrome with polydactyly in siblings.同胞手足患伴有多指畸形的朱伯特-博尔特绍伊泽综合征。
J Neurol Neurosurg Psychiatry. 1982 Aug;45(8):737-9. doi: 10.1136/jnnp.45.8.737.
3
Chorioretinal coloboma and Joubert syndrome: a nonrandom association.
J Pediatr. 1984 Aug;105(2):282-4. doi: 10.1016/s0022-3476(84)80133-x.
印度的医学遗传学与基因组医学:现状与未来机遇
Mol Genet Genomic Med. 2015 May;3(3):160-71. doi: 10.1002/mgg3.150.
4
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.伴有朱伯特综合征加眼肾受累的家族中的连锁分析确定了11号染色体p12 - q13.3上的CORS2基因座。
Am J Hum Genet. 2003 Sep;73(3):656-62. doi: 10.1086/378206. Epub 2003 Aug 13.
4
Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.家族性小脑蚓部发育不全。一种发作性呼吸急促、异常眼球运动、共济失调和智力迟钝的综合征。
Neurology. 1969 Sep;19(9):813-25. doi: 10.1212/wnl.19.9.813.
5
Dandy-Walker malformation with postaxial polydactyly: a new syndrome?丹迪-沃克畸形合并轴后多指畸形:一种新综合征?
Am J Med Genet. 1989 Aug;33(4):483-4. doi: 10.1002/ajmg.1320330414.
6
Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.乔伯特综合征:来自同一同胞关系的一名患病男胎和一名患病女胎的临床及病理描述。
Am J Med Genet. 1991 Jul 1;40(1):100-4. doi: 10.1002/ajmg.1320400121.
7
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.小脑蚓部发育不全的罕见综合征。I:朱伯特综合征。
Dev Med Child Neurol. 1978 Dec;20(6):758-63. doi: 10.1111/j.1469-8749.1978.tb15307.x.