Citations for
1DEL5Q31.3, PURA
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F.
Am J Hum Genet 95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16. 2014
2DEL5Q31.3, NRG2, PURA
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S.
Am J Med Genet A 158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18. 2012