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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Bibliografiske detaljer

Principais autores:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2022-06-01
Serier:	Frontiers in Genetics
Fag:	pontocerebellar hypoplasia 10 CLP1 Sudan pontocerebellar hypoplasia family
Online adgang:	https://www.frontiersin.org/articles/10.3389/fgene.2022.883211/full
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