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Genotype-phenotype correlations
Original article
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

Authors

  • Salah Azzi INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France Epigenetics Programme, The Babraham Institute, Cambridge, UK PubMed articlesGoogle scholar articles
  • Jennifer Salem MAGIC Foundation, RSS/SGA Research & Education Fund, Oak Park, Illinois, USA PubMed articlesGoogle scholar articles
  • Nathalie Thibaud INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Sandra Chantot-Bastaraud AP-HP, Hôpital Trousseau, Service de Génétique et d'Embryologie Médicales, Paris, France PubMed articlesGoogle scholar articles
  • Eli Lieber Department of Psychiatry and Biobehavioral Sciences, Semel Institute, University of California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Irène Netchine INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France PubMed articlesGoogle scholar articles
  • Madeleine D Harbison Department of Pediatrics, Ichan School of Medicine at Mount Sinai, New York, New York, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Irène Netchine, Explorations Fonctionnelles Endocriniennes, Hôpital Armand Trousseau, Pierre & Marie Curie School of Medicine, INSERM UMR-S938, 26 Av du Dr Arnold Netter, Paris 75012, France; irene.netchine{at}trs.aphp.fr
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Citation

Azzi S, Salem J, Thibaud N, et al
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Journal of Medical Genetics 2015;52:446-453.

Publication history

  • Received December 30, 2014
  • Revised April 9, 2015
  • Accepted April 10, 2015
  • First published May 7, 2015.
Online issue publication 
April 27, 2016

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/