Literature DB >> 2354548

Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

E Legius1, J P Fryns, H Van den Berghe.   

Abstract

A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene.

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Mesh:

Year:  1990        PMID: 2354548     DOI: 10.1111/j.1399-0004.1990.tb03517.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

Authors:  D Mazzone; A Milana; C Carpinato
Journal:  Eur J Pediatr       Date:  1992-04       Impact factor: 3.183

2.  Branchio-oculo-facial syndrome.

Authors:  M L Kulkarni; Shilpa Deshmukh; Ananda Kumar; Preethi M Kulkarni
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

3.  Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree.

Authors:  R König; S Fuchs; C Dukiet
Journal:  Eur J Pediatr       Date:  1994-06       Impact factor: 3.183

4.  Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

Authors:  S Kumar; W J Kimberling; C J Connolly; S Tinley; H A Marres; C W Cremers
Journal:  Am J Hum Genet       Date:  1994-12       Impact factor: 11.025

  4 in total

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