Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects

BACKGROUND: Pathogenic variants in the FIG4 gene have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessi...

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Detalles Bibliográficos
Autores principales: Yu, Yonglin, Yin, Hongwei, Ma, Changli, Jia, Xiaoyi, Chen, Wencong, Li, Haifeng, Wu, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634633/
https://www.ncbi.nlm.nih.gov/pubmed/36340727
http://dx.doi.org/10.3389/fped.2022.1008251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9634633/
https://www.ncbi.nlm.nih.gov/pubmed/36340727
http://dx.doi.org/10.3389/fped.2022.1008251

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