Case Report: A Relatively Mild Phenotype Produced by Novel Mutations in the SEPSECS Gene

Mutations in the human O-phosphoseryl-tRNA:selenocysteinyl-tRNA synthase gene (SEPSECS) are associated with progressive cerebello-cerebral atrophy (PCCA), also known as pontocerebellar hypoplasia type 2D (PCH2D). Early-onset profound developmental delay, progressive microcephaly, and hypotonia that...

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Detalles Bibliográficos
Autores principales: Rong, Tingyu, Yao, Ruen, Deng, Yujiao, Lin, Qingmin, Wang, Guanghai, Wang, Jian, Jiang, Fan, Jiang, Yanrui
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/PMC8826681/
https://www.ncbi.nlm.nih.gov/pubmed/35155316
http://dx.doi.org/10.3389/fped.2021.805575

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8826681/
https://www.ncbi.nlm.nih.gov/pubmed/35155316
http://dx.doi.org/10.3389/fped.2021.805575

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