1 | FMN2, NSMR9 |
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability. | |
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. | |
Am J Hum Genet 95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016. 2014 | |
2 | FMN2, NSMR9 |
De novo deletion of FMN2 in a girl with mild non-syndromic intellectual disability. | |
Almuqbil M, Hamdan FF, Mathonnet G, Rosenblatt B, Srour M. | |
Eur J Med Genet 56(12):686-8. doi: 10.1016/j.ejmg.2013.10.003. Epub 2013 Oct 24. 2013 | |
3 | NSMR9 |
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. | |
Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. | |
Eur J Med Genet 55(2):117-9. doi: 10.1016/j.ejmg.2011.11.004. Epub 2011 Dec 2. 2012 | |