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Diagnosis of Leri-Weill syndrome and Langer type of mesomelic dwarfism : search for microdeletions of SHOX gene by FISH

  • Service d'Histologie - Embryologie - Cytogntique
  • Hpital Necker-Enfants Malades
  • 149 rue de Svres
  • 75743 PARIS
  • FRANCE
  • Director of laboratory : Pr Serge ROMANA
  • More information
  • Phone : 33 (0)1 44 49 49 82
  • Additional Phone : 33 (0)1 44 49 49 83
  • Fax : 33 (0)1 44 49 04 17
  • Website
Last update: April 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Cytogenetics
Detection of microdeletions/microduplications
FISH

List of diseases and genes

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