S Auvin

Summary

Affiliation: Institut de Veille Sanitaire
Country: France

Publications

  1. pmc MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
    N Le Meur
    Service de Genetique, CHU de Rouen, France
    J Med Genet 47:22-9. 2010

Collaborators

  • J Andrieux
  • N Le Meur
  • A Goldenberg
  • S Jaillard
  • C Boucher
  • S Joriot
  • J P Kerckaert
  • A Guichet
  • T Frebourg
  • V David
  • H Journel
  • C Dubourg
  • M Holder-Espinasse
  • M Barth
  • A Charollais
  • P Amati-Bonneau
  • P Saugier-Veber
  • S Manouvrier-Hanu
  • D Bonneau

Detail Information

Publications1

  1. pmc MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
    N Le Meur
    Service de Genetique, CHU de Rouen, France
    J Med Genet 47:22-9. 2010
    ..Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation...