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Developmental defects
Original article
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome

Authors

  • F Brioude AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France UPMC Univ Paris 06, UMR_S 938, Centre de Recherche Saint Antoine, Paris, France PubMed articlesGoogle scholar articles
  • I Oliver-Petit Centre Hospitalo-Universitaire de Toulouse, Hôpital des enfants, Unité d'endocrinologie, génétique, maladies osseuses et gynécologie pédiatrique, Toulouse, France PubMed articlesGoogle scholar articles
  • A Blaise UPMC Univ Paris 06, UMR_S 938, Centre de Recherche Saint Antoine, Paris, France INSERM, UMR_S938, Centre de recherche de Saint-Antoine, Paris, France PubMed articlesGoogle scholar articles
  • F Praz UPMC Univ Paris 06, UMR_S 938, Centre de Recherche Saint Antoine, Paris, France INSERM, UMR_S938, Centre de recherche de Saint-Antoine, Paris, France PubMed articlesGoogle scholar articles
  • S Rossignol AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, UMR_S938, Centre de recherche de Saint-Antoine, Paris, France PubMed articlesGoogle scholar articles
  • M Le Jule AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France PubMed articlesGoogle scholar articles
  • N Thibaud AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France PubMed articlesGoogle scholar articles
  • A-M Faussat Université Toulouse III CHU Purpan, UMR 1043 CPTP, Toulouse, France PubMed articlesGoogle scholar articles
  • M Tauber Centre Hospitalo-Universitaire de Toulouse, Hôpital des enfants, Unité d'endocrinologie, génétique, maladies osseuses et gynécologie pédiatrique, Toulouse, France Université Toulouse III CHU Purpan, UMR 1043CPTP, Toulouse, France PubMed articlesGoogle scholar articles
  • Y Le Bouc UPMC Univ Paris 06, UMR_S 938, Centre de Recherche Saint Antoine, Paris, France INSERM, UMR_S938, Centre de recherche de Saint-Antoine, Paris, France PubMed articlesGoogle scholar articles
  • I Netchine AP-HP, Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France INSERM, UMR_S938, Centre de recherche de Saint-Antoine, Paris, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Frederic Brioude, Explorations Fonctionnelles Endocriniennes et Biologie Moléculaire, Hôpital Armand Trousseau, 26, avenue du Dr Arnold Netter, Paris 75012, France; frederic.brioude{at}trs.aphp.fr
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Citation

Brioude F, Oliver-Petit I, Blaise A, et al
CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
Journal of Medical Genetics 2013;50:823-830.

Publication history

  • Received March 28, 2013
  • Revised August 3, 2013
  • Accepted August 28, 2013
  • First published September 24, 2013.
Online issue publication 
April 27, 2016

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