Das Townes-Brocks-Branchio-Oto-Renales Syndrome ist ein autosomal dominantes Fehlbildungssyndrom, welches durch Mutationen im SALL1-Gen ausgelöst wird. Klinisch finden sich ähnlichkeiten mit der Branchio-Oto-Renale Dysplasie.
Townes-Brocks-Syndrome | ||||
SALL1 | ||||
Townes-Brocks-Branchio-Oto-Renales Syndrome | ||||
SALL1 | ||||
Townes-Brocks-Syndrome 1 | ||||
Townes-Brocks-Syndrome 2 | ||||
1. |
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2. |
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3. |
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4. |
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5. |
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6. |
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7. |
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8. |
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9. |
None (1984) Phenotypic variability in Townes-Brocks syndrome. |
10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
Reid IS et al. (1976) Familial and abnormality. |
17. |
Egan EA et al. (1977) Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams. |
18. |
None (1977) More on anal deformities. |
19. |
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20. |
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21. |
Kosaki R et al. (2007) Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. |
22. |
Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. |
23. |
Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. |
24. |
Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. |
25. |
Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. |
26. |
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27. |
OMIM.ORG article Omim 107480 |