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Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.
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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
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Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.
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American Journal of Human Genetics, 2011
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