REFERENCES
- Powell C M, Michaelis R C. Townes-Brocks syndrome. J Med Genet. 1999; 36(2)89–93
- Botzenhart E M, Bartalini G, Blair E, Brady A F, Elmslie F, Chong K L, Christy K, Torrs-Martinez W, Danesino C, Deardorff M A, Fryns J P, Marlin S, Garcia-Minaur S, et al. Townes-Brocks syndrome: Twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat. 2007; 28(2)204–5
- Blanck C, Kohlhase J, Engels S, Burfeind P, Engel W, Bottani A, Patel M S, Kroes H Y, Cobben J M. Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. J Med Genet. 2000; 37(4)303–7
- Botzenhart E M, Green A, Ilyina H, Konig R, Lowry R B, Lo I F, Shohat M, Burke L, McGaughran J, Chafai R, Pierquin Q, Michaelis R C, Whiteford M L, Simola K O, Rosler B, Kohlhase J. SALL1 mutation analysis in Townes-Brocks syndrome: 12 novel mutations and expansion of the phenotype. Hum Mutat. 2005; 26(3)282
- Kohlhase J, Taschner P E, Burfeind P, Pasche B, Newman B, Blanck C, Breuning M H, ten Kate L P, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick S J, Pauli R M, Wargowski D S, Devreindt K, et al. Am J Hum Genet. 1999; 64(2)435–445
- Rossmiller D R, Pasic T R. Hearing loss in Townes-Brocks syndrome. Otolaryngol Head Neck Surg. 1994; 111: 175–80
- Ramsay J, Taylor D. Congenital crocodile tears: A clue to the aetiology of Duane's syndrome. BJO. 1980; 64: 518–22
- Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed S N, Newbury-Ecob R, Reardon W. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003; 40(7)473–8
- Sakaki-Yumoto M, Kobayashi C, Sato A, Fujimura S, Matsumoto Y, Takasato M, Kodama T, Aburatani H, Asashima M, Yoshida M, Nishinakamura R. The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. Development. 2006; 133(15)3005–13