Das SRTD-Syndrom 2 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen IFT80 hervorgerufen wird.
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. |
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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. |
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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 |