Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference29 articles.
1. Hereditary deformities in man due to arrested development;Adams;J Hered,1945
2. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome;R1;Am J Hum Genet,2013
3. RBPJ mutations identified in two families affected by Adams-Oliver syndrome;Hassed;Am J Hum Genet,2012
4. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome;R1;Am J Hum Genet,2011
5. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies;Southgate;Am J Hum Genet,2011
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2. Adams-Oliver syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2023-01-08
3. Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome;European Journal of Medical Genetics;2022-12
4. Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy;International Journal of Ophthalmology;2022-08-18
5. Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly;Medicine;2021-03-05
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