PMC:4574214 / 491-1182 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4574214","sourcedb":"PMC","sourceid":"4574214","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4574214","text":"Results\nBased on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were 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