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

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  1. Article

    Correction: Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

    The original version of this Article erroneously cropped part of the abstract. The abstract has now been corrected to read ‘Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease char...

    Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca in Pediatric Research (2018)

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  2. Article

    Genetic and clinical aspects of Wolfram syndrome 1, a severe neurodegenerative disease

    Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in...

    Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca in Pediatric Research (2018)

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  3. Article

    Angiotensin-Converting Enzyme and Angiotensin Type 2 Receptor Gene Genotype Distributions in Italian Children with Congenital Uropathies

    Angiotensin I–converting enzyme (ACE) and angiotensin type 2 receptor (AT2R) gene polymorphisms have been associated with an increased incidence of congenital anomalies of the kidney and urinary tract (CAKUT)....

    Luciana Rigoli, Roberto Chimenz, Chiara Di Bella, Emanuela Cavallaro… in Pediatric Research (2004)

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