Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0098-2.pdf
Reference47 articles.
1. Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993;15:411–22.
2. Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134:143–56.
3. Rudnik-Schöneborn S, Barth PG, Zerres K. Pontocerebellar hypoplasia. Am J Med Genet C. 2014;166C:173–83.
4. Ivanova EL, Mau-Them FT, Riazuddin S, et al. Homozygous truncating variants in TBC1D23 cause pontocerebellar hypoplasia and alter cortical development. Am J Hum Genet. 2017;101:428–40.
5. Marin-Valencia I, Gerondopoulos A, Zaki MS, et al. Homozygous mutations in TBC1D23 lead to a non-degenerative form of pontocerebellar hypoplasia. Am J Hum Genet. 2017;101:441–50.
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