Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B-Reference-Cited by-同舟云学术

Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B

Published:2020-09-09 Issue:11 Volume:41 Page:1871-1876
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Roberts Lisa¹^ORCID,Julius Stephanie¹,Dawlat Shrinav²^ORCID,Yildiz Safiye¹^ORCID,Rebello George¹^ORCID,Meldau Surita²³^ORCID,Pillay Komala⁴^ORCID,Esterhuizen Alina¹²^ORCID,Vorster Alvera¹^ORCID,Benefeld Gameda¹,Rocha Jorge⁵^ORCID,Beighton Peter¹,Sellars Sean L.⁶,Thandrayen Kebashni⁷^ORCID,Pettifor John M.⁷^ORCID,Ramesar Raj S.¹

Affiliation:

1. UCT/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences University of Cape Town Cape Town South Africa

2. Department of Human Genetics, National Health Laboratory Servicexs Groote Schuur Hospital Cape Town South Africa

3. Division of Chemical Pathology, Department of Pathology University of Cape Town Cape Town South Africa

4. Division of Anatomical Pathology, Department of Pathology University of Cape Town Cape Town South Africa

5. Sydney Brenner Institute for Molecular Bioscience, Division of Human Genetics, National Health Laboratory Service, School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

6. Division of Otorhinolaryngology, Department of Surgery, Faculty of Health Sciences University of Cape Town Cape Town South Africa

7. Department of Paediatrics, Chris Hani Baragwanath Academic Hospital and School of Clinical Medicine, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa

Funder

South African Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24094

Reference31 articles.

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3. Rod-cone dystrophy, sensorineural deafness, and renal dysfunction: An autosomal recessive syndrome?

4. Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions;Botha M. C.;South African Medical Journal,1983

5. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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