A Tunisian patient with CLCN2‐related leukoencephalopathy

CLCN2‐related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the CLCN2 gene and leads to the dysfunction of its encoded CLC‐2 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We...

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Detalles Bibliográficos
Autores principales: Ben Mohamed, Dina, Saied, Zacharia, Ben Sassi, Samia, Ben Said, Mariem, Nabli, Fatma, Achouri, Afef, Jeridi, Cyrine, Masmoudi, Saber, Amouri, Rim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792646/
https://www.ncbi.nlm.nih.gov/pubmed/36583195
http://dx.doi.org/10.1002/ccr3.6737

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