Leitch et al., 2008
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Nature Genetics
40(4):443-448
Full text @ Nat. Genet.
| Marker Type | Symbol | Name |
|---|---|---|
| Gene | bbs1 | Bardet-Biedl syndrome 1 |
| Gene | bbs4 | Bardet-Biedl syndrome 4 |
| Gene | cep290 | centrosomal protein 290 |
| Gene | egr2b | early growth response 2b |
| Gene | mkks | MKKS centrosomal shuttling protein |
| Gene | mks1 | MKS transition zone complex subunit 1 |
| Gene | myod1 | myogenic differentiation 1 |
| Gene | pax2a | paired box 2a |
| Gene | tmem67 | transmembrane protein 67 |