A case of ocular cystinosis associated with two potentially severe CTNS mutations-Reference-Cited by-同舟云学术

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A case of ocular cystinosis associated with two potentially severe CTNS mutations

Published:2019-03-04 Issue:2 Volume:40 Page:157-160
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Browning Andrew C.¹,Figueiredo Gustavo S¹²,Baylis Oliver¹,Montgomery Emma³,Beesley Clare⁴,Molinari Elisa²,Figueiredo Francisco C.¹²,Sayer John A.²³

Affiliation:

1. Newcastle Eye Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

2. Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK

3. Renal Services, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK

4. North East Thames Regional Genetics Service, Level 6, Barclay House, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Funder

Northern Counties Kidney Research Fund

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1592198

Reference19 articles.

1. Cystinosis

2. Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

3. CYSTINOSIS IN AN ADULT

4. Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular Correlations

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