Literature DB >> 27109391

The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome.

Arushi Gahlot Saini1, Naveen Sankhyan1, Pankaj Gupta2, Sameer Vyas3, Pratibha Singhi4.   

Abstract

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Year:  2016        PMID： 27109391     DOI： 10.1007/s12098-016-2113-3

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  3 in total

1.  Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy.

Authors:  Chris S Bergstrom; Richard A Saunders; Amy K Hutchinson; Scott R Lambert
Journal:  J AAPOS       Date:  2005-06       Impact factor: 1.220

2.  Gillespie syndrome: a report of two further cases.

Authors:  J Nelson; M Flaherty; P Grattan-Smith
Journal:  Am J Med Genet       Date:  1997-08-08

3.  Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).

Authors:  T Glaser; C C Ton; R Mueller; M L Petzl-Erler; C Oliver; N C Nevin; D E Housman; R L Maas
Journal:  Genomics       Date:  1994-01-01       Impact factor: 5.736
  3 in total

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