| 1 | PMGAD, TUBB3 |
| Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features | |
| Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T. | |
| Eur J Paediatr Neurol. May;26:46-60. doi: 10.1016/j.ejpn.2020.03.001. Epub 2020 Mar 4. 2020 | |
| 2 | PMGAD, TUBB3 |
| Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. | |
| Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J. | |
| Hum Mol Genet 19(22):4462-73. Epub 2010 Sep 9. 2010 | |