Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability-Reference-Cited by-同舟云学术

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Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability

Published:2014-09-22 Issue:12 Volume:164 Page:2996-3002
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gal Moran¹,Levanon Erez Y.¹,Hujeirat Yasir²,Khayat Morad²,Pe'er Jacob³,Shalev Stavit²⁴

Affiliation:

1. The Mina and Everard Goodman Faculty of Life Sciences; Bar-Ilan University; Ramat-Gan Israel

2. The Genetic Institute; Emek Medical Center; Afula Israel

3. Department of Ophthalmology; Hadassah-Hebrew University Medical Center; Jerusalem Israel

4. Rappaport Faculty of Medicine; Technion; Haifa Israel

Funder

I-CORE Program of the Planning and Budgeting Committee, the Israel Science Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference35 articles.

1. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees;Abecasis;Nat Genet,2002

2. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome;Ai;Am J Hum Genet,2005

3. Isolation of a candidate gene for Norrie disease by positional cloning;Berger;Nat Genet,1992

4. wANNOVAR: Annotating genetic variants for personal genomes via the web;Chang;J Med Genet,2012

5. Familial exudative vitreoretinopathy mimicking persistent hyperplastic primary vitreous;Chang-Godinich;Am J Ophthalmol,1999

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2. Novel truncating variants inCTNNB1cause familial exudative vitreoretinopathy;Journal of Medical Genetics;2022-03-31

3. Blood-Retinal Barrier Development and Potential for Regeneration in Blinding Eye Disease;Tight Junctions;2022

4. Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort;Graefe's Archive for Clinical and Experimental Ophthalmology;2021-04-27

5. Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway;BioMed Research International;2020-04-27

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