SRTD-Syndrom (Short-rib thoracic dysplasia) 13
Das SRTD-Syndrom 13 (Short-rib thoracic dysplasia) ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CEP120 hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Roosing S et al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. [^] |
| 2. |
Shaheen R et al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [^] |
| 3. |
OMIM.ORG article Omim 616300 [^] |
Update: 29. April 2019
