Literature DB >> 6726575

Familial incidence of congenital anorectal anomalies.

M G Schwoebel, J Hirsig, A Schinzel, U G Stauffer.   

Abstract

We describe two families with pedigrees over three and two generations with nine members affected with anorectal malformations. Both pedigrees are compatible with autosomal dominant inheritance with variable penetrance and expression or with multifactorial inheritance with a high genetic load. The recurrence risk is thought to be in the range of 10% to 20% for first degree relatives of affected members.

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Year:  1984        PMID: 6726575     DOI: 10.1016/s0022-3468(84)80444-3

Source DB:  PubMed          Journal:  J Pediatr Surg        ISSN: 0022-3468            Impact factor:   2.545


  3 in total

Review 1.  Autosomal-dominant non-syndromic anal atresia: sequencing of candidate genes, array-based molecular karyotyping, and review of the literature.

Authors:  Charlotte Schramm; Markus Draaken; Gabriel Tewes; Enrika Bartels; Eberhard Schmiedeke; Stefanie Märzheuser; Sabine Grasshoff-Derr; Stuart Hosie; Stefan Holland-Cunz; Lutz Priebe; Martina Kreiss-Nachtsheim; Per Hoffmann; Stefan Aretz; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Journal:  Eur J Pediatr       Date:  2010-11-02       Impact factor: 3.183

2.  Anorectal atresia and variants at predicted regulatory sites in candidate genes.

Authors:  Tonia C Carter; Denise M Kay; Marilyn L Browne; Aiyi Liu; Paul A Romitti; Devon Kuehn; Mary R Conley; Michele Caggana; Charlotte M Druschel; Lawrence C Brody; James L Mills
Journal:  Ann Hum Genet       Date:  2012-11-06       Impact factor: 1.670

Review 3.  Associations of anorectal malformations and related syndromes.

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

  3 in total

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