Is PNPT1 -related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1 -related disorders-Reference-Cited by-同舟云学术

Is PNPT1 -related hearing loss ever non-syndromic? Whole exome sequencing of adult siblings expands the natural history of PNPT1 -related disorders

Published:2018-09-23 Issue:11 Volume:176 Page:2487-2493
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Eaton Alison¹^ORCID,Bernier Francois P.¹,Goedhart Caitlin¹,Caluseriu Oana²,Lamont Ryan E.¹^ORCID,Boycott Kym M.³,Parboosingh Jillian S.¹,Innes A. Micheil¹^ORCID,

Affiliation:

1. Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine; University of Calgary; Calgary Alberta

2. Department of Medical Genetics; University of Alberta; Edmonton Alberta

3. Children's Hospital of Eastern Ontario Research Institute; University of Ottawa; Ottawa Ontario

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40516/fullpdf

Reference17 articles.

1. Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease;Alodaib;European Journal of Human Genetics: EJHG,2016

2. FORGE Canada consortium: Outcomes of a 2-year National Rare-Disease Gene-Discovery Project;Beaulieu;American Journal of Human Genetics,2014

3. Human polynucleotide phosphorylase: Location matters;Chen;Trends in Cell Biology,2007