EXOSC9 mutation causes pontocerebellar hypoplasia type 1D (PCH1D): Refining the phenotype and literature review-Reference-Cited by-同舟云学术

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EXOSC9 mutation causes pontocerebellar hypoplasia type 1D (PCH1D): Refining the phenotype and literature review

Published:2022-06 Issue: Volume:27 Page:101568
ISSN:2452-0144
Container-title:Gene Reports
language:en
Short-container-title:Gene Reports

Author:

Khamirani Hossein Jafari,Sichani Ali Saber,Panahandeh Seyed Mehdi,Zoghi Sina,Tabei Seyed Sajjad,Darayee Maryam,Talebzadeh Mahdieh,Dianatpour Mehdi,Dastgheib Seyed Alireza,Tabei Seyed Mohammad Bagher

Publisher

Elsevier BV

Subject

Genetics

Reference16 articles.

1. The yeast exosome and human PM-scl are related complexes of 3’ → 5’ exonucleases;Allmang;Genes Dev.,1999

2. The protein data Bank;Berman;Nucleic Acids Res.,2000

3. Expanded PCH1D phenotype linked to EXOSC9 mutation;Bizzari;Eur. J. Med. Genet.,2020

4. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia;Boczonadi;Nat. Commun.,2014

5. Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy;Burns;Am. J. Hum. Genet.,2018

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