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Genetics May 2012

Recessive Mutations in TSPAN12 Cause Retinal Dysplasia and Severe Familial Exudative Vitreoretinopathy (FEVR)

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James A. Poulter; Alice E. Davidson; Manir Ali; David F. Gilmour; David A. Parry; Helen A. Mintz-Hittner; Ian M. Carr; Helen M. Bottomley; Vernon W. Long; Louise M. Downey; Panagiotis I. Sergouniotis; Genevieve A. Wright; Robert E. MacLaren; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes
TAGS: familial exudative vitreoretinopathies, mutation, retinal dysplasia, family
Invest. Ophthalmol. Vis. Sci.. 2012; 53(6):2873-2879. https://doi.org/10.1167/iovs.11-8629

Includes: Supplemental Content

ARVO Annual Meeting Abstract April 2011

Mutational Load In TSPAN12 Influences The Severity Of FEVR

James A. Poulter; Alice E. Davidson; Manir Ali; Helen A. Mintz-Hittner; Louise M. Downey; Panagiotis I. Sergouniotis; Anthony T. Moore; Andrew R. Webster; Chris F. Inglehearn; Carmel Toomes

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5370.

ARVO Annual Meeting Abstract May 2008

Bevacizumab as Anti-VEGF Therapy for Retinopathy of Prematurity: A Histopathologic Study

R. Penland; L. Kong; H. Mintz-Hittner; F. Kretzer; P. Chevez-Barrios

Invest. Ophthalmol. Vis. Sci.. 2008; 49(13):1390.

ARVO Annual Meeting Abstract December 2002

Autosomal Dominant Familial Exudative Vitreoretinopathy: Further Evidence for Genetic Heterogeneity

LM Downey; H Mintz-Hittner; C Toomes; J Keen; C Inglehearn

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):817.

ARVO Annual Meeting Abstract December 2002

Analysis of patients with various anterior segment disorders for mutations in PITX2, PITX3, FOXE3 and VSX1 genes

EV Semina; D Even; K Frees; P Bitoun; HA Mintz-Hittner; KM Summers; WL M Alward; I Hanson; V van Heyningen; JC Murray

Invest. Ophthalmol. Vis. Sci.. 2002; 43(13):2404.

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