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

Publication date: September 2020Source: Molecular Genetics and Metabolism Reports, Volume 24Author(s): 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

Source: Molecular Genetics and Metabolism Reports - July 8, 2020 Category: Genetics & Stem Cells Source Type: research