Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant-Reference-Cited by-同舟云学术

Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant

Published:2024-05-03 Issue: Volume: Page:
ISSN:1018-8827
Container-title:European Child & Adolescent Psychiatry
language:en
Short-container-title:Eur Child Adolesc Psychiatry

Author:

Granocchio Elisa,Andreoli Luca,Magazù Santina,Sarti Daniela,Leonardi Emanuela,Murgia Alessandra,Ciaccio Claudia

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00787-024-02452-4.pdf

Reference6 articles.

1. Ey E, Bourgeron T, Boeckers TM, Kim E, Han K, Editorial (2020) Shankopathies: Shank Protein Deficiency-Induced synaptic diseases. Front Mol Neurosci 13:11. https://doi.org/10.3389/fnmol.2020.00011

2. Doddato G, Fabbiani A, Scandurra V et al (2022) Identification of a Novel SHANK2 pathogenic variant in a patient with a neurodevelopmental disorder. Genes (Basel) 13(4):688. https://doi.org/10.3390/genes13040688

3. American Speech-Language-Hearing Association (2007) Childhood apraxia of speech [Position statement]. https://www.asha.org/policy/ps2007-00277/. Accessed April 29, 2024

4. Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

5. Worthey EA, Raca G, Laffin JJ et al (2013) Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. J Neurodev Disord 5(1):29. https://doi.org/10.1186/1866-1955-5-29