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

Salah Azzi,Madeleine D Harbison,Nathalie Thibaud,Irène Netchine,Eli Lieber,Sandra Chantot-Bastaraud,Jennifer Salem

doi:10.1136/jmedgenet-2014-102979

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

Salah Azzi, Madeleine D Harbison + Show 5 more

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https://doi.org/10.1136/jmedgenet-2014-102979

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Journal: Journal of Medical Genetics	Publication Date: May 7, 2015
Citations: 163	License type: open-access

Affiliation: Sorbonne Université, Hôpital Armand-Trousseau, Assistance Publique – Hôpitaux de Paris, Centre de Recherche Saint-Antoine, Inserm, Babraham Institute, Mount Sinai Hospital, University of California, Los Angeles

#Silver-Russell Syndrome #Clinical Scoring System + Show 8 more

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BackgroundMultiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and...

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