참고문헌
- Powell CM, Michaelis RC. Townes-Brocks syndrome. J Med Genet 1999;36:89-93.
- Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 1972;81:321-6. https://doi.org/10.1016/S0022-3476(72)80302-0
- Martinez-Frias ML, Bermejo Sanchez E, Arroyo Carrera I, Perez Fernandez JL, Pardo Romero M, Buron Martinez E, et al. The Townes-Brocks syndrome in Spain: the epidemiological aspects in a consecutive series of cases. An Esp Pediatr 1999;50:57-60.
- Cameron TH, Lachiewicz AM, Aylsworth AS. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet 1991;41:1-4. https://doi.org/10.1002/ajmg.1320410102
- Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T. Townes-Brocks syndrome associated with mental retardation. Am J Med Genet 1996;61:191-2. https://doi.org/10.1002/ajmg.1320610203
- O'Callaghan M, Young ID. The Townes-Brocks syndrome. J Med Genet 1990;27:457-61. https://doi.org/10.1136/jmg.27.7.457
- Kohlhase J, Schuh R, Dowe G, Kuhnlein RP, Jackle H, Schroeder B, et al. Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt. Genomics 1996;38:291-8. https://doi.org/10.1006/geno.1996.0631
- Kohlhase J. SALL1 mutations in Townes-Brocks syndrome and related disorders. Hum Mutat 2000;16:460-6. https://doi.org/10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4
- So HS, Choi HJ, Yoon HS, Hwang JS, Sohn KC. A case of townes-brocks syndrome. J Korean Pediatr Soc 2003;46:382-4.
- Park SY, Lee WR. Townes-brocks syndrome associated with hypothyroidism in a korean newborn: a case report. J Genet Med 2008;5:136-8.
- Choi WI, Kim JH, Yoo HW, Oh SH. A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. Korean J Pediatr 2010;53:1018-21. https://doi.org/10.3345/kjp.2010.53.12.1018
- Monteiro de Pina-Neto J. Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet 1984;18:147-52. https://doi.org/10.1002/ajmg.1320180118
- Friedman PA, Rao KW, Aylsworth AS. Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. Am J Hum Genet 1987;41(Suppl):A60.
- Michaelis RC, Kaiser-Rogers KA, Reitnauer PJ, Rao KW, Powell CM. Refinement of the critical region for Townes-Brocks syndrome. Am J Hum Genet 1996;59(Suppl):A228.
- Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 1998;18:81-3. https://doi.org/10.1038/ng0198-81
- Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, et al. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet 1999;64:435-45. https://doi.org/10.1086/302238
-
Kohlhase J. Townes-Brocks syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., eds.
$GeneReviews^{(R)}$ [Internet]. Seattle, WA: University of Washington, 1993-2015. [http://www.ncbi.nlm.nih.gov/pubmed/20301618] - Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, 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;28:204-5.
- Sudo Y, Numakura C, Abe A, Aiba S, Matsunaga A, Hayasaka K. Phenotypic variability in a family with Townes-Brocks syndrome. J Hum Genet 2010;55:550-1. https://doi.org/10.1038/jhg.2010.64