| 1 | ADGRG6, AMCN4 |
| A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. 2023 PMID: | |
| Shravya MS, Mathew M, Vasudeva A, Girisha KM, Nayak SS. | |
| Clin Genet. Jan;103(1):127-129. doi: 10.1111/cge.14237. Epub 2022 Oct 9. 2022 | |
| 2 | ADGRG6, AMCN4 |
| Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita. | |
| Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. | |
| Am J Hum Genet 96(6):955-61. doi: 10.1016/j.ajhg.2015.04.014. Epub 2015 May 21. 2015 | |