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.

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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

4. Hearing loss in children with mitochondrial disorders;Chennupati;International Journal of Pediatric Otorhinolaryngology,2011

5. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families;Hartley;Clinical Genetics,2017

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