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. |
Shaheen R et. al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. [^] |
2. |
Roosing S et. al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. [^] |
Update: 28. März 2018