| 1 | ERLIN2, IDMDC |
| A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures. | |
| Yıldırım Y, Orhan EK, Iseri SA, Serdaroglu-Oflazer P, Kara B, Solakoğlu S, Tolun A. | |
| Hum Mol Genet 20(10):1886-92. Epub 2011 Feb 17. 2011 | |