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2011 | 1 |
2016 | 1 |
2020 | 1 |
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Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency.
Pediatr Neurol. 2011 Feb;44(2):147-9. doi: 10.1016/j.pediatrneurol.2010.09.002.
Pediatr Neurol. 2011.
PMID: 21215917
It is characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei, and inferior olives. We present an 18-month-old infant with pontocerebellar hypoplasia type 3 and severe vitamin A deficiency. This case emphasizes …
It is characterized by hypoplasia and atrophy of the cerebellar cortex, dentate nuclei, pontine nuclei, and inferior olives. We present an 1 …
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N.
Iwama K, et al.
J Hum Genet. 2016 Jun;61(6):527-31. doi: 10.1038/jhg.2016.9. Epub 2016 Feb 18.
J Hum Genet. 2016.
PMID: 26888482
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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile.
Farnè M, Tedesco GM, Bedetti C, Mencarelli A, Rogaia D, Colavito D, Di Cara G, Stangoni G, Troiani S, Ferlini A, Prontera P.
Farnè M, et al.
Am J Med Genet A. 2020 Oct;182(10):2377-2383. doi: 10.1002/ajmg.a.61773. Epub 2020 Aug 3.
Am J Med Genet A. 2020.
PMID: 32744787
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