PMC:4574214 / 19555-20684 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":"Conclusions\nIn order to evaluate the association of ARID1B mutations with syndromic and non-syndromic short stature, we collected data from a total of 4411 patients who underwent clinical microarray testing at Boston Children’s Hospital, 48 non-syndromic short stature patients at Shanghai Children’s Medical Center and 70 patients reported in the literature with ARID1B gene mutations. By case-control study, retrospective genotype-phenotype analysis and ARID1B gene mutation screening, we found haploinsufficient mutations of ARID1B are associated with syndromic short stature in Coffin-Sirissyndromeor patients with intellectual disability. ARID1B mutations are also found to be associated with non-syndromic short stature. This finding supports the notion that chromatin-remodeling genes play an important role in human height regulation.\n\nEthics, consent and permissions\nThis study is reviewed and approved by ethics committee of Shanghai Children’s Medical Center【SCMC-IRB-K2013007】. All participants have signed a consent form, and all the information were obtained with appropriate consent based on the SCMC requirement. ","divisions":[{"label":"Title","span":{"begin":0,"end":11}},{"label":"Section","span":{"begin":844,"end":1128}},{"label":"Title","span":{"begin":844,"end":875}}],"tracks":[]}