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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: schoumans j. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
Concurrent microdeletion and duplication of 22q11.2.
Blennow E, Lagerstedt K, Malmgren H, Sahlén S, Schoumans J, Anderlid B. Blennow E, et al. Among authors: schoumans j. Clin Genet. 2008 Jul;74(1):61-7. doi: 10.1111/j.1399-0004.2008.01008.x. Epub 2008 Apr 28. Clin Genet. 2008. PMID: 18445048
94 results