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.
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1. |
Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. ![]() |
2. |
Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome. ![]() |
3. |
Doray B et al. (1999) Two cases of Townes-Brocks syndrome. ![]() |
4. |
Powell CM et al. (1999) Townes-Brocks syndrome. ![]() |
5. |
Newman WG et al. (1997) Townes-Brocks syndrome presenting as end stage renal failure. ![]() |
6. |
Ishikiriyama S et al. (1996) Townes-Brocks syndrome associated with mental retardation. ![]() |
7. |
Johnson JP et al. (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. ![]() |
8. |
Walpole IR et al. (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness. ![]() |
9. |
None (1984) Phenotypic variability in Townes-Brocks syndrome. ![]() |
10. |
Townes PL et al. (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. ![]() |
11. |
Silver W et al. (1972) The Holt-Oram syndrome with previously undescribed associated anomalies. ![]() |
12. |
de Vries-Van der Weerd MA et al. (1988) A new family with the Townes-Brocks syndrome. ![]() |
13. |
Ferraz FG et al. (1989) Townes-Brocks syndrome. Report of a case and review of the literature. ![]() |
14. |
O'Callaghan M et al. (1990) The Townes-Brocks syndrome. ![]() |
15. |
Cameron TH et al. (1991) Townes-Brocks syndrome in two mentally retarded youngsters. ![]() |
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. |
Kurnit DM et al. (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations. ![]() |
20. |
Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. ![]() |
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. |
Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16). ![]() |
27. |
OMIM.ORG article Omim 107480![]() |