Townes-Brocks branchiootorenal-like syndrome is an autosomal dominant malformation syndrome which is caused by mutations of the SALL1 gene. The clinical symptoms show some overlap with branchiootorenal dysplasia.
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| 1. |
Kohlhase J et al. (1998) Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
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| 2. |
Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome.
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| 3. |
Doray B et al. (1999) Two cases of Townes-Brocks syndrome.
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| 4. |
Powell CM et al. (1999) Townes-Brocks syndrome.
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Newman WG et al. (1997) Townes-Brocks syndrome presenting as end stage renal failure.
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| 6. |
Ishikiriyama S et al. (1996) Townes-Brocks syndrome associated with mental retardation.
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| 7. |
Johnson JP et al. (1996) Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.
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| 8. |
Walpole IR et al. (1982) Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.
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| 9. |
None (1984) Phenotypic variability in Townes-Brocks syndrome.
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| 10. |
Townes PL et al. (1972) Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.
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| 11. |
Silver W et al. (1972) The Holt-Oram syndrome with previously undescribed associated anomalies.
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| 12. |
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| 13. |
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| 14. |
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| 15. |
Cameron TH et al. (1991) Townes-Brocks syndrome in two mentally retarded youngsters.
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| 16. |
Reid IS et al. (1976) Familial and abnormality.
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| 17. |
Egan EA et al. (1977) Additional experience with routine use of oral kanamycin prophylaxis for necrotizing enterocolitis in infants under 1,500 grams.
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| 18. |
None (1977) More on anal deformities.
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| 19. |
Kurnit DM et al. (1978) Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.
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| 20. |
Furniss D et al. (2007) Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.
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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.
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| 22. |
Botzenhart EM et al. (2005) SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
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| 23. |
Albrecht B et al. (2004) Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
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| 24. |
Surka WS et al. (2001) Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.
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| 25. |
Engels S et al. (2000) A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.
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| 26. |
Serville F et al. (1993) Townes-Brocks syndrome in an infant with translocation t (5;16).
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| 27. |
OMIM.ORG article Omim 107480
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