Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay

J Autism Dev Disord. 2022 Oct;52(10):4605-4607. doi: 10.1007/s10803-021-05332-x. Epub 2021 Oct 28.

Lucia Pia Bruno^{1

2}, Francesca Fava^{1

2

3}, Margherita Baldassarri^{1

2}, Virginia M Salvati⁴, Valeria Scandurra⁵, Roberto Canitano⁵, Floriana Valentino^{1

2}, Gabriella Doddato^{1

2}, Rossella Tita³, Annarita Giliberti^{1

2}, Alessandra Renieri^{1

2

3}, Francesca Ariani^{6

7

8}

¹ Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.
² Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.
³ Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
⁴ UOSD Pediatria Cava de' Tirreni- AOU S. Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy.
⁵ Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy.
⁶ Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy. francesca.ariani@unisi.it.
⁷ Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy. francesca.ariani@unisi.it.
⁸ Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy. francesca.ariani@unisi.it.

No abstract available

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