Literature DB >> 6637476

Multiple hereditary gastrointestinal atresias: study of a family.

F Arnal-Monreal, F Pombo, A Capdevila-Puerta.   

Abstract

Two siblings with multiple gastrointestinal atresias, from stomach to rectum, are reported. The pathological findings obtained from surgical material and complete autopsies are stressed. This syndrome, first described in 1973, presents a unique combination of clinical, radiologic and pathologic findings and is probably secondary to a malformative process taking place early in intrauterine life and effecting the whole gastrointestinal tract.

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Year:  1983        PMID: 6637476     DOI: 10.1111/j.1651-2227.1983.tb09812.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  2 in total

1.  A very rare type of multiple intestinal atresias: "a string of pearls".

Authors:  S Sozubir; E Ariturk; S Baris; S Gork; R Rizalar; F Bernay; N Gurses; S Souzubir
Journal:  Indian J Pediatr       Date:  1996 Sep-Oct       Impact factor: 1.967

2.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Authors:  Rui Chen; Silvia Giliani; Gaetana Lanzi; George I Mias; Silvia Lonardi; Kerry Dobbs; John Manis; Hogune Im; Jennifer E Gallagher; Douglas H Phanstiel; Ghia Euskirchen; Philippe Lacroute; Keith Bettinger; Daniele Moratto; Katja Weinacht; Davide Montin; Eleonora Gallo; Giovanna Mangili; Fulvio Porta; Lucia D Notarangelo; Stefania Pedretti; Waleed Al-Herz; Wasmi Alfahdli; Anne Marie Comeau; Russell S Traister; Sung-Yun Pai; Graziella Carella; Fabio Facchetti; Kari C Nadeau; Michael Snyder; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-04       Impact factor: 14.290

  2 in total

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