L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant

L1 syndrome, a complex X-linked neurological disorder, is caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. L1CAM molecule is a member of immunoglobulin (Ig) superfamily of neural cell adhesion molecules (CAMs), which plays a pivotal role in the developing nervous system. In this st...

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Detalles Bibliográficos
Autores principales: Wang, Ping, Liao, Hong, Wang, Quyou, Xie, Hanbing, Wang, He, Yang, Mei, Liu, Shanling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Genetics: Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8863719/
https://www.ncbi.nlm.nih.gov/pubmed/34914080
http://dx.doi.org/10.1007/s43032-021-00828-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8863719/
https://www.ncbi.nlm.nih.gov/pubmed/34914080
http://dx.doi.org/10.1007/s43032-021-00828-4

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