Case Report: Further Delineation of Neurological Symptoms in Young Children Caused by Compound Heterozygous Mutation in the PIEZO2 Gene

PIEZO2 protein is a unique ion channel that converts mechanical impulses into cellular signals in somatosensory neurons and is involved in various mechanotransduction pathways. The recessive PIEZO2 loss-of-function pathogenic variants are associated with distal arthrogryposis with impaired proprioce...

Descripción completa

Detalles Bibliográficos
Autores principales: Klaniewska, Magdalena, Jedrzejowska, Maria, Rydzanicz, Malgorzata, Paprocka, Justyna, Biela, Mateusz, Wolanska, Ewelina, Pollak, Agnieszka, Debek, Emilia, Sasiadek, Maria, Ploski, Rafal, Gos, Monika, Smigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113815/
https://www.ncbi.nlm.nih.gov/pubmed/33995476
http://dx.doi.org/10.3389/fgene.2021.620752

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8113815/
https://www.ncbi.nlm.nih.gov/pubmed/33995476
http://dx.doi.org/10.3389/fgene.2021.620752

Ejemplares similares