| 1 | ARCL3B, PYCR1 |
| Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. | |
| Lin DS, Chang JH, Liu HL, Wei CH, Yeung CY, Ho CS, Shu CH, Chiang MF, Chuang CK, Huang YW, Wu TY, Jian YR, Huang ZD, Lin SP. | |
| Am J Med Genet A 155A(12):3095-9. doi: 10.1002/ajmg.a.34326. Epub 2011 Nov 3. 2011 | |