Wolfram syndrome 1 in the Italian population: genotype–phenotype correlations

Objectives We studied 45 patients with Wolfram syndrome 1 (WS1) to describe their clinical history and to search for possible genotype–phenotype correlations. Methods Clinical criteria contributing to WS1 diagnosis were analyzed. The patients were classified into three genotypic classes according to...

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Veröffentlicht in:	Pediatric research 2020-02, Vol.87 (3), p.456-462
Hauptverfasser:	Rigoli, Luciana, Aloi, Concetta, Salina, Alessandro, Di Bella, Chiara, Salzano, Giuseppina, Caruso, Rosario, Mazzon, Emanuela, Maghnie, Mohamad, Patti, Giuseppa, D’Annunzio, Giuseppe, Lombardo, Fortunato
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Basic Science Article Child Disease Progression Female Genetic Association Studies Genetic Predisposition to Disease Heterozygote Homozygote Humans Italy - epidemiology Male Medical prognosis Medicine Medicine & Public Health Membrane Proteins - genetics Middle Aged Mutation Mutation, Missense Pediatric Surgery Pediatrics Phenotype Prevalence Prognosis Wolfram Syndrome - diagnosis Wolfram Syndrome - epidemiology Wolfram Syndrome - genetics Young Adult
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