SRTD-Syndrom (Short-rib thoracic dysplasia) 10
Das SRTD-Syndrom 10 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen IFT172 hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Halbritter J et. al. (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. [^] |
| 2. |
Huber C et. al. (2012) Ciliary disorder of the skeleton. [^] |
| 3. |
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. [^] |
