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Clinical Genetics

  1. Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epileps...

    Authors: Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2019 45:159

    Content type: Case report

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  2. Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvemen...

    Authors: Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno and Paolo Picco

    Citation: Italian Journal of Pediatrics 2019 45:148

    Content type: Letter to the Editor

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  3. 17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...

    Authors: Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro and Raffaele Falsaperla

    Citation: Italian Journal of Pediatrics 2019 45:138

    Content type: Case report

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  4. Procedural sedation is increasingly needed in pediatrics. Although different drugs or drugs association are available, which is the safest and most efficient has yet to be defined, especially in syndromic chil...

    Authors: Matteo Trevisan, Sara Romano, Egidio Barbi, Irene Bruno, Flora Maria Murru and Giorgio Cozzi

    Citation: Italian Journal of Pediatrics 2019 45:119

    Content type: Case report

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  5. Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our objective was to characterize clinical and genetic spectrum of ILD in Chinese children associated with SFTPC mutat...

    Authors: Da Hong, Dan Dai, Jing Liu, Congcong Zhang, Tingting Jin, Yanyan Shi, Gaoli Jiang, Mei Mei, Libo Wang and Liling Qian

    Citation: Italian Journal of Pediatrics 2019 45:117

    Content type: Research

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  6. 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

    Content type: Research

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  7. 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

    Content type: Letter to the Editor

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