Townes-Brocks syndrome 1 is an autosomal dominant malformation syndrome which is caused by mutations of the SALL1 gene. The cardinal symptoms include imperforate anus, dysplastic ears, and thumb malformations. Occasionally seen are hearing loss, foot malformations, renal impairment, genitourinary malformations, and congenital heart disease.
Townes-Brocks syndrome | ||||
SALL1 | ||||
Townes-Brocks branchiootorenal-like syndrome | ||||
Townes-Brocks syndrome 1 | ||||
SALL1 | ||||
Townes-Brocks syndrome 2 | ||||
1. |
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2. |
Sudo Y et al. (2010) Phenotypic variability in a family with Townes-Brocks syndrome. |
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. |
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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. |
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 |