Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference14 articles.
1. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy;Poulter;Am J Hum Genet,2010
2. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients;Jason;Invest Ophthalmol Vis Sci,2015
3. Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly;Hull;Am J Ophthalmol,2019
4. Mutations in NOTCH1 cause Adams-Oliver syndrome;Stittrich;Am J Hum Genet,2014
5. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome;Shaheen;Am J Hum Genet,2011
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2. Clinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants;Acta Ophthalmologica;2024-05-05
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