An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability

Microdeletion syndromes are frequent causes of neuropsychiatric disorders leading to intellectual disability as well as autistic features accompanied by epilepsy and craniofacial anomalies. From comparative deletion mapping of the smallest microdeletion to date at 12q24.31, found in a patient with o...

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Veröffentlicht in:Human genetics 2016-07, Vol.135 (7), p.757-771
Hauptverfasser: Labonne, Jonathan D. J., Lee, Kang-Han, Iwase, Shigeki, Kong, Il-Keun, Diamond, Michael P., Layman, Lawrence C., Kim, Cheol-Hee, Kim, Hyung-Goo
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Sprache:eng
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