A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome-Reference-Cited by-同舟云学术

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

Published:2014-11-19 Issue:9 Volume:23 Page:1266-1268
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gauthier Julie,Ouled Amar Bencheikh Bouchra,Hamdan Fadi F,Harrison Steven M,Baker Linda A,Couture Françoise,Thiffault Isabelle,Ouazzani Reda,Samuels Mark E,Mitchell Grant A,Rouleau Guy A,Michaud Jacques L,Soucy Jean- François

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014256.pdf

Reference12 articles.

1. Berdon WE, Baker DH, Blanc WA, Gay B, Santulli TV, Donovan C : Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. AJR Am J Roentgenol 1976; 126: 957–964.

2. Granata C, Puri P : Megacystis-microcolon-intestinal hypoperistalsis syndrome. J Pediatr Gastroenterol Nutr 1997; 25: 12–19.

3. Lashley DB, Masliah E, Kaplan GW, McAleer IM : Megacystis microcolon intestinal hypoperistalsis syndrome: bladder distension and pyelectasis in the fetus without anatomic outflow obstruction. Urology 2000; 55: 774.

4. Mc Laughlin D, Puri P : Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatr Surg Int 2013; 29: 947–951.

5. Wangler MF, Gonzaga-Jauregui C, Gambin T et al: Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet 2014; 10: e1004258.

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