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CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature

BACKGROUND: There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1‐like (CHL1) gene that has been found to have language delays and intellectual disability. Here we report a one month of age patient who dev...

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Detalles Bibliográficos
Autores principales: Tsuboyama, Melissa, Iqbal, Mohammed Anwar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8372067/
https://www.ncbi.nlm.nih.gov/pubmed/34056867
http://dx.doi.org/10.1002/mgg3.1725