Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. The Gene for Death Agonist BID Maps to the Region of Human 22q11.2 Duplicated in Cat Eye Syndrome Chromosomes and to Mouse Chromosome 6
2. De novo direct duplication of chromosome segment 22q11.2-q13.1
3. Ocular coloboma: a reassessment in the age of molecular neuroscience
4. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome
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1. Cat-eye syndrome (a psychiatric aspect);Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2019
2. Type B Interrupted Aortic Arch and Hydrocephalus Associated with Mosaicism of a 1.37 Mb Amplified Cat Eye Syndrome Critical Region;Pediatrics & Neonatology;2015-08
3. Quadricuspid Aortic Valve and Anomalous Systemic Venous Connection in a Patient With Cat-Eye Syndrome;Circulation;2015-03-31
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