SRTD-Syndrom (Short-rib thoracic dysplasia) 06
Das SRTD-Syndrom 6 (Short-rib thoracic dysplasia) ist eine autosomal rezessive oder digenisch rezessive Erkrankung, die durch Mutationen im Gen NEK1 hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Thiel C et. al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski. [^] |
| 2. |
El Hokayem J et. al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. [^] |
| 3. |
Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. [^] |
| 4. |
Huber C et. al. (2012) Ciliary disorder of the skeleton. [^] |
| 5. |
Silengo MC et. al. (1987) Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases. [^] |
| 6. |
Spranger J et. al. (1974) Short rib-polydactyly (SRP) syndromes, types Majewski and Saldino-Noonan. [^] |
| 7. |
Urioste M et. al. (1994) Short rib-polydactyly syndrome and pericentric inversion of chromosome 4. [^] |
| 8. |
Motegi T et. al. (1979) Short rib-polydactyly syndrome, Majewski type, in two male siblings. [^] |
| 9. |
Majewski F et. al. (1971) [Polysyndactyly, short limbs, and genital malformations--a new syndrome?]. [^] |
| 10. |
Toftager-Larsen K et. al. (1984) Fetoscopy in prenatal diagnosis of the Majewski and the Saldino-Noonan types of the Short Rib-Polydactyly syndromes. [^] |
| 11. |
Walley VM et. al. (1983) Brief clinical report: short rib-polydactyly syndrome, Majewski type. [^] |
| 12. |
Cooper CP et. al. (1982) Lethal short-rib polydactyly syndrome of the Majewski type: a report of three cases. [^] |
| 13. |
Chess J et. al. (1982) Ocular pathology of the Majewski syndrome. [^] |
| 14. |
Chen H et. al. (1980) Short rib-polydactyly syndrome, Majewski type. [^] |
| 15. |
Urioste M et. al. (1994) Chromosome 4p16 and osteochondroplasias. [^] |
| 16. |
Franceschini P et. al. (1995) Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. [^] |
| 17. |
Neri G et. al. (1995) Oral-facial-skeletal syndromes. [^] |
