Literature DB >> 6627722

Dominant ano-rectal malformation, nephritis and nerve-deafness: a possible new entity?

J Lowe, G Kohn, O Cohen, M Mogilner, M Schiller.   

Abstract

A family is presented in which ano-rectal malformation and features common to Alport Syndrome appear to be present in three generations. The possibility of a new syndrome based on a single gene defect is discussed.

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Mesh:

Year:  1983        PMID: 6627722     DOI: 10.1111/j.1399-0004.1983.tb02238.x

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


  2 in total

1.  Townes-Brocks syndrome.

Authors:  R König; U Schick; S Fuchs
Journal:  Eur J Pediatr       Date:  1990-12       Impact factor: 3.183

Review 2.  Associations of anorectal malformations and related syndromes.

Authors:  Sam W Moore
Journal:  Pediatr Surg Int       Date:  2013-04-09       Impact factor: 1.827

  2 in total

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