| 1 | CDH1, MRCPH, MRDO, PLS3 |
| Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. | |
| Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K. | |
| Am J Med Genet A 170(11):2889-2894. doi: 10.1002/ajmg.a.37826. 2016 | |