Das SRTD-Syndrom 5 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen WDR19 hervorgerufen wird.
1. |
Bredrup C et al. (2011) Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. |
2. |
de Vries J et al. (2010) Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. |
3. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. |
4. |
Huber C et al. (2012) Ciliary disorder of the skeleton. |
5. |
OMIM.ORG article Omim 614376 |