Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis-Reference-Cited by-同舟云学术

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Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis

Published:2021-11-09 Issue: Volume: Page:1-9
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Patel Chetan Khantibai¹,Broadgate Suzanne²,Shalaby Ahmed¹²,Yu Jing²,Nemeth Andrea H.²³,Downes Susan M¹²,Halford Stephanie²^ORCID

Affiliation:

1. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

2. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

3. Oxford Centre for Genomic Medicine, Oxford, UK

Funder

Thames Valley and South Midlands Clinical Research Network

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1998554

Reference53 articles.

1. The second report of Knobloch syndrome

2. Biometry, optical coherence tomography, and further clinical observations in Knobloch syndrome

3. Molecular and Clinical Findings in Patients With Knobloch Syndrome

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