EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations-Reference-Cited by-同舟云学术

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Published:2014-02-13 Issue:1 Volume:9 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Eggens Veerle RC,Barth Peter G,Niermeijer Jikke-Mien F,Berg Jonathan N,Darin Niklas,Dixit Abhijit,Fluss Joel,Foulds Nicola,Fowler Darren,Hortobágyi Tibor,Jacques Thomas,King Mary D,Makrythanasis Periklis,Máté Adrienn,Nicoll James AR,O’Rourke Declan,Price Sue,Williams Andrew N,Wilson Louise,Suri Mohnish,Sztriha Laszlo,Dijns-de Wissel Marit B,van Meegen Mia T,van Ruissen Fred,Aronica Eleonora,Troost Dirk,Majoie Charles BLM,Marquering Henk A,Poll-Thé Bwee Tien,Baas Frank

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

https://link.springer.com/content/pdf/10.1186/1750-1172-9-23.pdf

Reference14 articles.

1. Barth PG: Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev. 1993, 15: 411-422. 10.1016/0387-7604(93)90080-R.

2. Zanni G, Scotton C, Passarelli C, Fang M, Barresi S, Dallapiccola B: Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. Neurogenetics. 2013, 14: 247-250. 10.1007/s10048-013-0371-z.

3. Simonati A, Cassandrini D, Bazan D, Santorelli FM: TSEN54 mutation in a child with pontocerebellar hypoplasia type 1. Acta Neuropathol. 2011, 121: 671-673. 10.1007/s00401-011-0823-1.

4. Namavar Y, Barth PG, Kasher PR, van RF, Brockmann K, Bernert G: Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011, 134: 143-156. 10.1093/brain/awq287.

5. Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M: Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009, 85: 281-289. 10.1016/j.ajhg.2009.07.006.

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