Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome-Reference-Cited by-同舟云学术

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Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

Published:2018-02-16 Issue:5 Volume:26 Page:669-675
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Moreno Carolina Araujo,Sobreira Nara,Pugh Elizabeth,Zhang Peng,Steel Gary,Torres Fábio Rossi,Cavalcanti Denise Pontes

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0055-5.pdf

Reference30 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. Am J Roentgenol. 1976;126:957–64.

2. Gosemann JH, Puri P. Megacystis–microcolon intestinal hypoperistalsis syndrome: systematic review of outcome. Pediatr Surg Int. 2011;27:1041–6.

3. Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, et al. Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. Am J Med Genet A. 2016;170:2965–74.

4. Thorson W, Diaz O, Joseph H, Ii F, Spiliopoulos M, Quintero R, et al. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet.. 2014;133:737–42.

5. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, 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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