Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly-Reference-Cited by-同舟云学术

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

Published:2019-11 Issue: Volume:207 Page:87-98
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Hull Sarah,Arno Gavin,Ostergaard Pia,Pontikos Nikolas,Robson Anthony G.,Webster Andrew R.,Hogg Chris R.,Wright Genevieve A.,Henderson Robert H.H.,Martin Carol-Anne,Jackson Andrew P.,Mansour Sahar,Moore Anthony T.,Michaelides Michel

Funder

Fight for Sight

Moorfields Eye Hospital Special Trustees

Retina UK

Foundation Fighting Blindness

National Institute for Health Research

University College London Institute of Ophthalmology

Rosetrees Trust

Publisher

Elsevier BV

Subject

Ophthalmology

Reference53 articles.

1. Familial exudative vitreoretinopathy and related retinopathies;Gilmour;Eye (Lond),2015

2. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients;Salvo;Invest Ophthalmol Vis Sci,2015

3. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy;Nikopoulos;Am J Hum Genet,2010

4. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy;Poulter;Am J Hum Genet,2010

5. Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR);Poulter;Invest Ophthalmol Vis Sci,2012

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