From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants-Reference-Cited by-同舟云学术

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Published:2019-09-15 Issue:12 Volume:40 Page:2414-2429
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Dodson Lois M.¹^ORCID,Baldan Alessandro²,Nissbeck Mikael³,Gunja Sethu M. R.³,Bonnen Penelope E.¹^ORCID,Aubert Geraldine⁴,Birchansky Sherri⁵,Virtanen Anders³,Bertuch Alison A.¹²^ORCID

Affiliation:

1. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

2. Department of Pediatrics, Hematology/OncologyBaylor College of Medicine and Texas Children's Hospital Houston Texas

3. Department of Cell and Molecular BiologyUppsala University Uppsala Sweden

4. Repeat Diagnostics Inc. North Vancouver British Columbia Canada

5. Department of RadiologyBaylor College of Medicine and Texas Children's Hospital Houston Texas

Funder

National Institute of General Medical Sciences

National Institute of Diabetes and Digestive and Kidney Diseases

American Society of Hematology

National Institute of Neurological Disorders and Stroke

National Heart, Lung, and Blood Institute