Literature DB >> 5558750

The syndrome of congenital cerebellar ataxia, aniridia and mental retardation.

J K Sarsfield.   

Abstract

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Mesh：

Year:  1971        PMID： 5558750     DOI： 10.1111/j.1469-8749.1971.tb03057.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


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  4 in total

1.  Gillespie syndrome reported as bilateral congenital mydriasis.

Authors:  O Quarrell
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

2.  Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.

Authors:  M D Crawfurd; R B Harcourt; P A Shaw
Journal:  J Med Genet       Date:  1979-10       Impact factor: 6.318

3.  Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.

Authors:  R E Ferrell; A Chakravarti; H M Hittner; V M Riccardi
Journal:  Proc Natl Acad Sci U S A       Date:  1980-03       Impact factor: 11.205

4.  Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract.

Authors:  Ying Lin; Hongbin Gao; Yi Zhu; Chuan Chen; Tao Li; Bingqian Liu; Cancan Lyu; Ying Huang; Haichun Li; Qingxiu Wu; Chenjin Jin; Xiaoling Liang; Xinhua Huang; Lin Lu
Journal:  Mol Med Rep       Date:  2018-09-10       Impact factor: 2.952
  4 in total

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