Biallelic variants in <scp> <i>TTC21B</i> </scp> as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease-Reference-Cited by-同舟云学术

Biallelic variants in TTC21B as a rare cause of early‐onset arterial hypertension and tubuloglomerular kidney disease

Published:2022-03 Issue:1 Volume:190 Page:109-120
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:American J of Med Genetics Pt C

Author:

Olinger Eric¹^ORCID,Phakdeekitcharoen Pran¹,Caliskan Yasar²^ORCID,Orr Sarah¹,Mabillard Holly¹^ORCID,Pickles Charles³,Tse Yincent³^ORCID,Wood Katrina⁴,Sayer John A.¹⁵⁶^ORCID,

Affiliation:

1. Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

2. Division of Nephrology Saint Louis University Center for Abdominal Transplantation St. Louis Missouri USA

3. Paediatric Nephrology, Great North Children's Hospital Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

4. Department of Cellular Pathology Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

5. Renal Services Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

6. NIHR Newcastle Biomedical Research Centre Newcastle upon Tyne UK

Funder

Medical Research Council Canada

Kidney Research UK

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31964

Reference27 articles.

1. A Compound Heterozygous Mutation in the Ciliary Gene TTC21B Causes Nephronophthisis Type 12

2. Retinal dystrophy as part of TTC21B-associated ciliopathy

3. Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report

4. Ciliopathies

5. Contribution of the TTC21B gene to glomerular and cystic kidney diseases;Bullich G.;Nephrology, Dialysis, Transplantation,2017

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