| 1 | ECCL, FGFR1 |
| Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. | |
| Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S, Nowaczyk MJ, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H, Hennekam RC, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of Washington Center for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, Biesecker LG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. | |
| Am J Hum Genet 98(3):579-87. doi: 10.1016/j.ajhg.2016.02.006. 2016 | |