Literature DB >> 9268096

Inheritance of familial congenital isolated anorectal malformations: case report and review.

D Landau1, J Mordechai, M Karplus, R Carmi.   

Abstract

We report on a 3-generation family with 4 members affected with congenital low anorectal malformations. The vertical segregation of the anomalies and the occurrence of affected males and females support autosomal-dominant inheritance, which was suggested previously for this type of congenital anomaly.

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Mesh：

Year:  1997        PMID： 9268096     DOI： 10.1002/(sici)1096-8628(19970822)71:3<280::aid-ajmg6>3.0.co;2-y

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


  5 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.  Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

Authors:  Charlotte H W Wijers; Ivo de Blaauw; Carlo L M Marcelis; Rene M H Wijnen; Han Brunner; Paola Midrio; Piergiorgio Gamba; Maurizio Clementi; Ekkehart Jenetzky; Nadine Zwink; Heiko Reutter; Enrika Bartels; Sabine Grasshoff-Derr; Stefan Holland-Cunz; Stuart Hosie; Stefanie Märzheuser; Eberhard Schmiedeke; Célia Crétolle; Sabine Sarnacki; Marc A Levitt; Nine V A M Knoers; Nel Roeleveld; Iris A L M van Rooij
Journal:  Pediatr Surg Int       Date:  2010-11       Impact factor: 1.827

3.  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 4.  Associations of anorectal malformations and related syndromes.

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

5.  Anorectal Malformations in Male Monozygotic Twins and Review of Literature.

Authors:  Vijay Kumar Kundal; Raksha Kundal; Atul Kumar Meena; Pinaki Ranjan Debnath; Arvind Kumar Shukla
Journal:  J Indian Assoc Pediatr Surg       Date:  2022-03-01
  5 in total

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