A 1.5 Mb terminal deletion of 12p associated with autism spectrum disorder
Gene, ISSN: 0378-1119, Vol: 542, Issue: 1, Page: 83-86
2014
- 24Citations
- 69Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations24
- Citation Indexes24
- 24
- CrossRef20
- Captures69
- Readers69
- 69
Article Description
We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5 Mb in size and encompasses 13 genes ( B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1 ). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient.
Bibliographic Details
http://www.sciencedirect.com/science/article/pii/S0378111914002637; http://dx.doi.org/10.1016/j.gene.2014.02.058; http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=84897554807&origin=inward; http://www.ncbi.nlm.nih.gov/pubmed/24613754; https://linkinghub.elsevier.com/retrieve/pii/S0378111914002637; https://dx.doi.org/10.1016/j.gene.2014.02.058
Elsevier BV
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