Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency-Reference-Cited by-同舟云学术

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Published:2021-05-03 Issue:7 Volume:185 Page:2204-2210
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Veldman Bram C. F.¹,Kuper Willemijn F. E.¹,Lilien Marc²,Schuurs‐Hoeijmakers Janneke H. M.³,Marcelis Carlo³,Phan Milan⁴,Hettinga Ymkje⁵,Talsma Herman E.⁵,Hasselt Peter M.¹,Haijes Hanneke A.¹^ORCID

Affiliation:

1. Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands

2. Department of Pediatric Nephrology, Wilhelmina Children's Hospital University Medical Center Utrecht Utrecht The Netherlands

3. Department of Clinical Genetics Radboud University Medical Center Nijmegen The Netherlands

4. Department of Ophthalmology Radboud University Medical Center Nijmegen The Netherlands

5. Bartiméus Diagnostic Center for Complex Visual Disorders Zeist The Netherlands

Funder

Radboud Universitair Medisch Centrum

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62225

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