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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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Автори: Mutaz Amin, Cedric Vignal, Ahlam A. A. Hamed, Inaam N. Mohammed, Maha A. Elseed, Rayan Abubaker, Yousuf Bakhit, Arwa Babai, Eman Elbadi, Esraa Eltaraifee, Doua Mustafa, Ashraf Yahia, Melka Osman, Mahmoud Koko, Mohamed Mustafa, Mohamed Alsiddig, Sahwah Haroun, Azza Elshafea, Severine Drunat, Liena E. O. Elsayed, Ammar E. Ahmed, Odile Boespflug-Tanguy, Imen Dorboz
Формат: Artigo
Мова:Inglês
Опубліковано: Frontiers Media S.A. 2022-06-01
Серія:Frontiers in Genetics
Предмети:
pontocerebellar hypoplasia 10
CLP1
Sudan
pontocerebellar hypoplasia
family
Онлайн доступ:https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/full
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