SRTD-Syndrom (Short-rib thoracic dysplasia) 02
Das SRTD-Syndrom 2 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen IFT80 hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Tüysüz B et al. (2009) Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients. [^] |
| 2. |
Beales PL et al. (2007) IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. [^] |
| 3. |
Cavalcanti DP et al. (2011) Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. [^] |
| 4. |
Schmidts M et al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. [^] |
| 5. |
Huber C et al. (2012) Ciliary disorder of the skeleton. [^] |
| 6. |
OMIM.ORG article Omim 611263 [^] |
