A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis-Reference-Cited by-同舟云学术

A novel homozygous variant in REN in a family presenting with classic features of disorders involving the renin–angiotensin pathway, without renal tubular dysgenesis

Published:2020-08-17 Issue:10 Volume:182 Page:2284-2290
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dilliott Allison A.¹²^ORCID,Wang Jian²,Brown Emma¹,Singh Gagandeep³,Shkrum Michael J.⁴,Clin Madeleine⁵,Rupar Charles Anthony¹⁴⁶,Hegele Robert A.¹²,Siu Victoria Mok¹⁶⁷

Affiliation:

1. Department of Biochemistry, Schulich School of Medicine and Dentistry Western University London Ontario Canada

2. Robarts Research Institute, Schulich School of Medicine and Dentistry Western University London Ontario Canada

3. Department of Microbiology and Immunology, Schulich School of Medicine and Dentistry Western University London Ontario Canada

4. Department of Pathology and Laboratory Medicine, Schulich School of Medicine and Dentistry Western University London Ontario Canada

5. Countryside Midwifery Milverton Ontario Canada

6. Children's Health Research Institute Lawson Health Research Institute London Ontario Canada

7. Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry Western University London Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61780

Reference31 articles.

1. A method and server for predicting damaging missense mutations

2. Possible new autosomal recessive syndrome with unusual renal histopathological changes

3. Familial Renal Tubular Dysgenesis: A Disorder Not Isolated to Proximal Convoluted Tubules

4. Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aα-chain gene are not associated with the decay of the mutant mRNAs

5. A global reference for human genetic variation

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