Literature DB >> 6542310

Sensorineural deafness in the FG syndrome: report on four new cases.

G Neri, B Blumberg, P V Miles, J M Opitz.   

Abstract

We report on four new cases of FG syndrome with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, sensorineural deafness. The association between sensorineural deafness and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the Townes-Brocks syndrome.

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Year:  1984        PMID： 6542310     DOI： 10.1002/ajmg.1320190219

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  3 in total

1.  FG syndrome.

Authors:  E Thompson; M Baraitser
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

2.  A missense mutation in CASK causes FG syndrome in an Italian family.

Authors:  Giulio Piluso; Francesca D'Amico; Valentina Saccone; Ettore Bismuto; Ida Luisa Rotundo; Marina Di Domenico; Stefania Aurino; Charles E Schwartz; Giovanni Neri; Vincenzo Nigro
Journal:  Am J Hum Genet       Date:  2009-02-05       Impact factor: 11.025

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

Authors:  Paulo Breno Noronha Liberalesso; Mara L Cordeiro; Simone Carreiro Vieira Karuta; Karyn Regina Jordão Koladicz; Anderson Nitsche; Bianca Simone Zeigelboim; Salmo Raskin; Michael Rauchman
Journal:  BMC Med Genet       Date:  2017-11-06       Impact factor: 2.103
  3 in total

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