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Novel duplication of the cell adhesion molecule L1-like gene in an individual with cognitive impairment, tall stature, and obesity: A case report

The gene that codes for the close homolog of L1 (CHL1 gene) is located in the 3p26.3 cytogenetic band in the distal portion of the 3p chromosome. This gene is highly expressed in the central nervous system and plays an important role in brain formation and plasticity. Complete or partial CHL 1 gene-...

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Detalles Bibliográficos
Autores principales: Onate-Quiroz, Kenny V., Nwosu, Benjamin Udoka, Salemi, Parissa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10126371/
https://www.ncbi.nlm.nih.gov/pubmed/37114233
http://dx.doi.org/10.3389/fneur.2023.1104649