Investigating the Genetic Etiology of Pediatric Patients with Peripheral Hypotonia Using the Next-Generation Sequencing Method

Background  Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype–phenotype correlation can be established in 15 to 30% of patients, it is difficult to obtain a correlat...

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Detalles Bibliográficos
Autores principales: Eker, Damla, Gurkan, Hakan, Karal, Yasemin, Yalcintepe, Sinem, Demir, Selma, Atli, Engin, Karasalihoglu, Serap T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Georg Thieme Verlag KG 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286875/
https://www.ncbi.nlm.nih.gov/pubmed/35846108
http://dx.doi.org/10.1055/s-0042-1745873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9286875/
https://www.ncbi.nlm.nih.gov/pubmed/35846108
http://dx.doi.org/10.1055/s-0042-1745873

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