Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing

Chronic intestinal pseudoobstruction (CIPO) is a severe form of intestinal dysmotility, and patients often undergo iterative abdominal surgeries and require parenteral nutrition. Several genes are known to be responsible for this pathology, including ACTG2 (autosomal dominant) and MYH11 (autosomal r...

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Bibliographic Details
Main Authors: Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier, Lena Damaj, Alinoë Lavillaureix
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis type I
Hurler-Scheie disease
Exome sequencing
Chronic intestinal pseudoobstruction
Incidental finding
MYH11
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426920300677

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http://www.sciencedirect.com/science/article/pii/S2214426920300677

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