Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies

Author:

Devavarapu Prasad K. V.,Uppaluri Kalyan Ram,Nikhade Vrushabh Anil,Palasamudram Kalyani,Sri Manjari KavutharapuORCID

Publisher

Springer Science and Business Media LLC

Reference74 articles.

1. López-Muñoz E, Hernández-Zarco A, Polanco-Ortiz A, et al. Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): report of a case with prolonged survival and literature review. J Pediatr Urol. 2013;9:e12–8.

2. Nakamura H, O’Donnell AM, Puri P. Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review. Pediatr Surg Int. 2019;35:175–80.

3. Andrés AM, Miguel M, De la Torre C, et al. Pseudoobstrucción intestinal idiopática crónica y síndrome de berdon: todavía un desafío diagnóstico y terapéutico para el cirujano pediátrico [Chronic idiopathic intestinal pseudo obstruction and Berdon syndrome: still a diagnostic and therapeutic challenge for the pediatric surgeon]. Cir Pediatr. 2010;23:215–21.

4. Ambartsumyan L. Megacystis-microcolon-intestinal hypoperistalsis syndrome overview. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 2019. p. 1993–2024.

5. Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, et al. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015;23:1266–8.

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