Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan

Pontocerebellar hypoplasia type 10 (PCH10) is a very rare autosomal recessive neurodegenerative disease characterized by intellectual disability, microcephaly, severe developmental delay, pyramidal signs, mild cerebellar atrophy, and white matter changes in the brain, as shown by magnetic resonance...

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Detalles Bibliográficos
Autores principales: Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201487/
https://www.ncbi.nlm.nih.gov/pubmed/35719383
http://dx.doi.org/10.3389/fgene.2022.883211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201487/
https://www.ncbi.nlm.nih.gov/pubmed/35719383
http://dx.doi.org/10.3389/fgene.2022.883211

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