Cargando…
Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review
BACKGROUND: The cell adhesion molecule L1-like (CHL1 or CALL) gene is located on chromosome 3p26.3, and it is highly expressed in the central and peripheral nervous systems. The protein encoded by this gene is a member of the L1 family of neural cell adhesion molecules, and it plays a role in nervou...
Autores principales: | Li, Chunyang, Liu, Chunxue, Zhou, Bingrui, Hu, Chunchun, Xu, Xiu |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924281/ https://www.ncbi.nlm.nih.gov/pubmed/27354858 http://dx.doi.org/10.1186/s13039-016-0261-9 |
Ejemplares similares
-
Targeted sequencing and clinical strategies in children with autism spectrum disorder: A cohort study
por: Hu, Chunchun, et al.
Publicado: (2023) -
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes
por: Palumbo, Orazio, et al.
Publicado: (2015) -
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
por: Cai, Guiqing, et al.
Publicado: (2008) -
Common and Distinct Disruptions of Cortical Surface Morphology Between Autism Spectrum Disorder Children With and Without SHANK3 Deficiency
por: Li, Dongyun, et al.
Publicado: (2021) -
16p13.11 microduplication including NDE1 gene in autism spectrum disorder: A case report
por: Moustakil, S., et al.
Publicado: (2023)