Literature DB >> 8183852

Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report supporting autosomal recessive inheritance.

H M McNamara, J L Onwude, J G Thornton.   

Abstract

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Year:  1994        PMID： 8183852     DOI： 10.1002/pd.1970140213

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  5 in total

Review 1.  Classification and diagnostic criteria of variants of Hirschsprung's disease.

Authors:  Florian Friedmacher; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

2.  Megacystis-microcolon-intestinal-hypoperistalsis syndrome.

Authors:  C James; A R Watson
Journal:  Pediatr Nephrol       Date:  1995-12       Impact factor: 3.714

Review 3.  Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2016-12-17       Impact factor: 1.827

Review 4.  Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Authors:  Danielle Mc Laughlin; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

5.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917
  5 in total

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