Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 anomalies in offspring include agenesis of the corpus callosum (ACC) and neuronal heterotopia which are ectopic nodules of nerve cells that failed t...

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Detalles Bibliográficos
Autores principales: Vontell, Regina, Supramaniam, Veena G., Davidson, Alice, Thornton, Claire, Marnerides, Andreas, Holder-Espinasse, Muriel, Lillis, Suzanne, Yau, Shu, Jansson, Mattias, Hagberg, Henrik E., Rutherford, Mary A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558385/
https://www.ncbi.nlm.nih.gov/pubmed/31231230
http://dx.doi.org/10.3389/fphys.2019.00623

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558385/
https://www.ncbi.nlm.nih.gov/pubmed/31231230
http://dx.doi.org/10.3389/fphys.2019.00623

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