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Clinical Genetics

  1. Content type: Research

    Bardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be m...

    Authors: Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti…

    Citation: Italian Journal of Pediatrics 2019 45:72

    Published on:

  2. Content type: Letter to the Editor

    Filocamo et al. recently published a paper describing the presence of a pseudodeficiency allele, constituted by p.Ser141Ser and p.Arg737Gly polymorphisms at the NAGLU gene, which leads to a reduced level of the a...

    Authors: Diana Rojas Malaga, Sandra Leistner-Segal and Ana Carolina Brusius-Facchin

    Citation: Italian Journal of Pediatrics 2019 45:60

    Published on: