Literature DB >> 9072124

Townes-Brocks syndrome presenting as end stage renal failure.

W G Newman1, M D Brunet, D Donnai.   

Abstract

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Mesh：

Year:  1997        PMID： 9072124

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

Review 1.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

2.  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Authors:  J Kohlhase; P E Taschner; P Burfeind; B Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; B Mitulla; J Seidel; S J Kirkpatrick; R M Pauli; D S Wargowski; K Devriendt; W Proesmans; O Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; A A Schinzel; W Reardon; E Seemanova; W Engel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.

Authors:  Jia-Xi Fang; Jin-Shi Zhang; Min-Min Wang; Lin Liu
Journal:  World J Clin Cases       Date:  2022-07-16       Impact factor: 1.534

4.  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
  4 in total

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