Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

We have identified a rare small (∼450 kb unique sequence) recurrent deletion in a previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21.1 in five unrelated families with developmental delay (DD)/intellectual disability (ID), ADHD, epilepsy and other neurobehavioral abnormal...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Dharmadhikari, Avinash V., Kang, Sung-Hae L., Szafranski, Przemyslaw, Person, Richard E., Sampath, Srirangan, Prakash, Siddharth K., Bader, Patricia I., Phillips, John A., Hannig, Vickie, Williams, Misti, Vinson, Sherry S., Wilfong, Angus A., Reimschisel, Tyler E., Craigen, William J., Patel, Ankita, Bi, Weimin, Lupski, James R., Belmont, John, Cheung, Sau Wai, Stankiewicz, Pawel
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2012
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3392111/
https://ncbi.nlm.nih.gov/pubmed/22543972
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds166
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