Pontocerebellar hypoplasia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference46 articles.
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3. Early pontocerebellar hypoplasia with vanishing testes: A new syndrome;Anderson;Am J Med Genet Part A,2011
4. Pontocerebellar hypoplasias: An overview of a group of inherited neurodegenerative disorders with fetal onset;Barth;Brain Dev,1993
5. Pontocerebellar hypoplasia type 2. A neuropathological update;Barth;Acta Neuropathol,2007
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1. Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations;Epilepsia Open;2023-12-08
2. FAM91A1–TBC1D23 complex structure reveals human genetic variations susceptible for PCH;Proceedings of the National Academy of Sciences;2023-10-30
3. Novel bi-allelic variants of CHMP1A contribute to pontocerebellar hypoplasia type 8: additional clinical and genetic evidence;Frontiers in Neurology;2023-09-18
4. Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7;American Journal of Medical Genetics Part A;2023-08-23
5. Homozygous EXOSC3 c.395A>C Variants in Pontocerebellar Hypoplasia Type 1B: A Sibling Pair With Childhood Lethal Presentation and Literature Review;Cureus;2023-05-19
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