dc.contributor.author | Tucci, A | en_US |
dc.contributor.author | Ciaccio, C | en_US |
dc.contributor.author | Scuvera, G | en_US |
dc.contributor.author | Esposito, S | en_US |
dc.contributor.author | Milani, D | en_US |
dc.date.accessioned | 2020-09-30T14:48:11Z | |
dc.date.available | 2016-08-01 | en_US |
dc.date.issued | 2016 | en_US |
dc.identifier.issn | 1755-8166 | en_US |
dc.identifier.other | 80 | |
dc.identifier.other | 80 | |
dc.identifier.other | 80 | |
dc.identifier.uri | https://qmro.qmul.ac.uk/xmlui/handle/123456789/67320 | |
dc.description.abstract | BACKGROUND: Deletions in the long arm of chromosome 1 have been described in patients with a phenotype consisting primarily of obesity, intellectual disability and autism-spectrum disorder. The minimal region of overlap comprises two genes: DPYD and MIR137. CASE PRESENTATION: We describe a 10-year-old boy with syndromic obesity who carries a novel 1p21.3 deletion overlapping the critical region with the MIR137 gene only. CONCLUSIONS: This study suggests that MIR137 is the mediator of the obesity phenotype of patients carrying 1p21.3 microdeletions. | en_US |
dc.format.extent | 80 - ? | en_US |
dc.language | eng | en_US |
dc.relation.ispartof | Mol Cytogenet | en_US |
dc.rights | Attribution 3.0 United States | |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | |
dc.subject | 1p21.3 | en_US |
dc.subject | Array-CGH | en_US |
dc.subject | Autism spectrum disorder | en_US |
dc.subject | Genetics | en_US |
dc.subject | Intellectual disability | en_US |
dc.subject | MIR137 | en_US |
dc.subject | Obesity | en_US |
dc.title | MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions. | en_US |
dc.type | Article | |
dc.identifier.doi | 10.1186/s13039-016-0289-x | en_US |
pubs.author-url | https://www.ncbi.nlm.nih.gov/pubmed/27822311 | en_US |
pubs.notes | Not known | en_US |
pubs.publication-status | Published online | en_US |
pubs.volume | 9 | en_US |
dcterms.dateAccepted | 2016-10-25 | en_US |