Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM_004897.4) variants; c.75_94del, p.(Leu27Argfs*39), c.851 C > A, p.(Ala...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Appelhof, Bart, Wagner, Matias, Hoefele, Julia, Heinze, Anja, Roser, Timo, Koch-Hogrebe, Margarete, Roosendaal, Stefan D., Dehghani, Mohammadreza, Mehrjardi, Mohammad Yahya Vahidi, Torti, Erin, Houlden, Henry, Maroofian, Reza, Rajabi, Farrah, Sticht, Heinrich, Baas, Frank, Wieczorek, Dagmar, Jamra, Rami Abou
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7940488/
https://ncbi.nlm.nih.gov/pubmed/33168985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00749-x
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