Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

Author:

Liberalesso Paulo Breno Noronha,Cordeiro Mara L.ORCID,Karuta Simone Carreiro Vieira,Koladicz Karyn Regina Jordão,Nitsche Anderson,Zeigelboim Bianca Simone,Raskin Salmo,Rauchman Michael

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Townes PL, Brocks ER. Hereditary syndrome of imperforate anus with hand, foot and ear anomalies. J Pediatr. 1972;81:321–6.

2. Neri G, Blumberg B, Miles PV, Opitz JM. Sensorineural deafness in the FG syndrome: report on four new cases. Am J Med Genet. 1984;19:369–77.

3. der Weerd MA d V-V, Willems PJ, Mandema HM, Kate LPT. A new family with the Townes-brocks syndrome. Clin Genet. 1988;34:195–200.

4. Ferraz FG, Nunes L, Ferraz ME, Sousa JP, Santos M, Carvalho C, Maroteaux P. Townes-Brocks syndrome. Report of a case and review of the literature. Ann Genet. 1989;32:120–3.

5. Monteiro de Pina-Neto J. Phenotypic variability in Townes-Brocks syndrome. Am J Med Genet. 1984;18:147–52.

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