| 1 | ELOVL4, NICHD, SCA34, STGD3 |
| Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations | |
| Deák F, Anderson RE, Fessler JL, Sherry DM | |
| Front Cell Neurosci. Sep 20;13:428. doi: 10.3389/fncel.2019.0042 2019 | |
| 2 | ELOVL4, NICHD |
| Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia. | |
| Aldahmesh MA, Mohamed JY, Alkuraya HS, Verma IC, Puri RD, Alaiya AA, Rizzo WB, Alkuraya FS. | |
| Am J Hum Genet 89(6):745-50. Epub 2011 Nov 17. 2011 | |