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

BACKGROUND: Multiple 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 phenotype. SUBJECTS AND METHODS: Sixty-nine patients were examined by two physicians. C...

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Detalles Bibliográficos
Autores principales: Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2015
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501172/
https://www.ncbi.nlm.nih.gov/pubmed/25951829
http://dx.doi.org/10.1136/jmedgenet-2014-102979

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501172/
https://www.ncbi.nlm.nih.gov/pubmed/25951829
http://dx.doi.org/10.1136/jmedgenet-2014-102979

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