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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Authors
  • Zanni, G
  • Saillour, Y
  • Nagara, M
  • Billuart, P
  • Castelnau, L
  • Moraine, C
  • Faivre, L
  • Bertini, E
  • Durr, A
  • Guichet, A
  • Rodriguez, D
  • des Portes, V
  • Beldjord, C
  • Chelly, J
Type
Published Article
Journal
Neurology
Publisher
Ovid Technologies (Wolters Kluwer) - American Academy of Neurology
Publication Date
Nov 08, 2005
Volume
65
Issue
9
Pages
1364–1369
Identifiers
PMID: 16221952
Source
Medline
License
Unknown

Abstract

Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.

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