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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
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Article
Accés en línia: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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