Das Schwerhörigkeit - Symphalangie-Syndrom 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im NOG-Gen hervorgerufen wird. Charakteristisch sind verschiedene Synostosen der proximalen Phalangen von Fingern und Zehen, Karpal und Tarsal-Gelenken, humeroradialer Gelenke und den gelenken der Halswirbelsäule sowie auch eine Schallleitungsschwerhörigkeit.
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| 1. |
Lehmann K et al. (2007) A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
|
| 2. |
Edwards MJ et al. (2000) Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.
|
| 3. |
Krakow D et al. (1998) Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.
|
| 4. |
da-Silva EO et al. (1984) Multiple synostosis syndrome: study of a large Brazilian kindred.
|
| 6. |
Hurvitz SA et al. (1985) The facio-audio-symphalangism syndrome: report of a case and review of the literature.
|
| 7. |
Maroteaux P et al. (1972) [Multiple synostosis disease].
|
| 8. |
Rudnik-Schöneborn S et al. (2010) Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.
|
| 9. |
Wan DC et al. (2007) Noggin suppression enhances in vitro osteogenesis and accelerates in vivo bone formation.
|
| 10. |
None (1916) Hereditary Anchylosis of the Proximal Phalan-Geal Joints (Symphalangism).
|
| 11. |
van den Ende JJ et al. (2005) The facio-audio-symphalangism syndrome in a four generation family with a nonsense mutation in the NOG-gene.
|
| 12. |
Takahashi T et al. (2001) Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.
|
| 13. |
Gong Y et al. (1999) Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
|
| 14. |
Higashi K et al. (1983) Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.
|
| 15. |
Gaal SA et al. (1987) Symphalangism and its introduction into Hawaii: a pedigree.
|
| 16. |
Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.
|
| 17. |
OMIM.ORG article Omim 186500
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