Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a...

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主要な著者: Schaaf, Christian P, Boone, Philip M, Sampath, Srirangan, Williams, Charles, Bader, Patricia I, Mueller, Jennifer M, Shchelochkov, Oleg A, Brown, Chester W, Crawford, Heather P, Phalen, James A, Tartaglia, Nicole R, Evans, Patricia, Campbell, William M, Chun-Hui Tsai, Anne, Parsley, Lea, Grayson, Stephanie W, Scheuerle, Angela, Luzzi, Carol D, Thomas, Sandra K, Eng, Patricia A, Kang, Sung-Hae L, Patel, Ankita, Stankiewicz, Pawel, Cheung, Sau W
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2012
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499754/
https://ncbi.nlm.nih.gov/pubmed/22617343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.95
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