Deep intronic variant in <i>MVK</i> as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa-Reference-Cited by-同舟云学术

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa

Published:2022-08-14 Issue:6 Volume:102 Page:524-529
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Dvaladze Anna¹,Tavares Erika¹,Di Scipio Matteo¹,Nimmo Graeme²³,Grudzinska‐Pechhacker Monika K.¹⁴,Paton Tara⁵,Tumber Anupreet⁴,Li Shuning¹,Eileen Christabel¹,Ertl‐Wagner Birgit⁶⁷,Mamak Eva⁸,Hoffmann Georg⁹,Marshall Christian R.¹⁰,Haas Dorothea⁹,Mayatepek Ertan¹¹,Schulze Andreas²¹²¹³,Heon Elise¹⁴^ORCID,Vincent Ajoy¹⁴

Affiliation:

1. Genetics and Genome Biology The Hospital for Sick Children (HSC) Toronto Canada

2. Clinical and Metabolic Genetics, HSC Toronto Canada

3. Fred A Litwin Family Centre for Genetic Medicine The University Health Network Toronto Canada

4. Department of Ophthalmology and Vision Sciences HSC and University of Toronto Toronto Canada

5. The Centre for Applied Genomics, HSC Toronto Canada

6. Division of Neuroradiology, HSC Toronto Canada

7. Department of Medical Imaging University of Toronto Toronto Canada

8. Department of Psychology, HSC Toronto Canada

9. Neuropaediatrics and Paediatric Metabolic Medicine University Hospital Heidelberg Heidelberg Germany

10. Division of Genome Diagnostics, HSC Toronto Canada

11. Department of General Paediatrics, Neonatology and Paediatric Cardiology University Children's Hospital, Heinrich Heine University Dusseldorf Germany

12. Department of Paediatrics University of Toronto Toronto Canada

13. Department of Biochemistry University of Toronto Toronto Canada

Funder

Foundation Fighting Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14207

Reference37 articles.

1. Retinitis pigmentosa