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

A, Cospain; C, Dubourg; S, Gastineau; S, Pichard; V, Gandemer; J, Bonneau; Tayrac M, de; C, Moreau; S, Odent; L, Pasquier; L, Damaj; A, Lavillaureix

doi:10.1016/j.ymgmr.2020.100621

Public

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

Shared by NobleBlocks on Jul 7, 2020 • 12:00 AM UTC

Authors:

Cospain A

Dubourg C

Gastineau S

Abstract

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 <i>ACTG2</i> (autosomal dominant) and <i>MYH11</i...

Subject

Incidental Finding

Mucopolysaccharidosis Type I

Exome Sequencing

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