Literature DB >> 2585462

Cat eye syndrome associated with aganglionosis of the small and large intestine.

J Ward1, I A Sierra, E D'Croz.   

Abstract

A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.

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Year:  1989        PMID: 2585462      PMCID: PMC1015718          DOI: 10.1136/jmg.26.10.647

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  1 in total

1.  Characterization of the supernumerary chromosome in cat eye syndrome.

Authors:  H E McDermid; A M Duncan; K R Brasch; J J Holden; E Magenis; R Sheehy; J Burn; N Kardon; B Noel; A Schinzel
Journal:  Science       Date:  1986-05-02       Impact factor: 47.728

  1 in total
  5 in total

1.  Concurrent Hirschsprung's disease and anorectal malformation: a systematic review.

Authors:  Hiroki Nakamura; Prem Puri
Journal:  Pediatr Surg Int       Date:  2019-09-24       Impact factor: 1.827

2.  Coloboma and anorectal malformations: a rare association with important clinical implications.

Authors:  Giulia Brisighelli; Andrea Bischoff; Marc Levitt; Jennifer Hall; Elizabeth Monti; Alberto Peña
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

3.  A Hirschsprung disease locus at 22q11?

Authors:  W S Kerstjens-Frederikse; R M Hofstra; A J van Essen; J H Meijers; C H Buys
Journal:  J Med Genet       Date:  1999-03       Impact factor: 6.318

Review 4.  Association of Hirschsprung's disease and anorectal malformation: a systematic review.

Authors:  Alejandro D Hofmann; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

5.  Cat eye syndrome, anorectal malformation, and Hirschsprung's disease.

Authors:  Mohammad M Saleem; Mohammad N Alzuobi; Awni D Shahait
Journal:  J Indian Assoc Pediatr Surg       Date:  2014-04
  5 in total

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