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Article

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

Journal of medical genetics - 1 Jul 2015

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

Abstract excerpt

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. Clinical scores were generated for all patients, with a new, six-item scoring system: (1) small for gestational age,...

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Identifiers

PMID: 25951829
DOI: 10.1136/jmedgenet-2014-102979
PMCID: PMC4501172

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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