Molecular characterization of NRXN1deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

التفاصيل البيبلوغرافية
العنوان: Molecular characterization of NRXN1deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
المؤلفون: Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
المصدر: Genetics in Medicine; January 2017, Vol. 19 Issue: 1 p53-61, 9p
مستخلص: The purpose of the current study was to assess the penetrance of NRXN1deletions.
قاعدة البيانات: Supplemental Index
الوصف
تدمد:10983600
15300366
DOI:10.1038/gim.2016.54