@article{cospain:hal-02927979,
TITLE = {Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing},
AUTHOR = {Cospain, Auriane and Dubourg, Christ{\`e}le and Gastineau, Swellen and Pichard, Samia and Gandemer, Virginie and Bonneau, Jacinthe and de Tayrac, Marie and Moreau, Caroline and Odent, Sylvie and Pasquier, Laurent and Damaj, L{\'e}na and Lavillaureix, Alino{\"e},
URL = {https://hal.science/hal-02927979},
JOURNAL = {Molecular Genetics and Metabolism Reports},
PUBLISHER = {Elsevier},
VOLUME = {24},
PAGES = {100621},
YEAR = {2020},
MONTH = Sep, DOI = {10.1016/j.ymgmr.2020.100621},
KEYWORDS = {Mucopolysaccharidosis type I ; Hurler-Scheie disease ; Exome sequencing ; Chronic intestinal pseudoobstruction ; Incidental finding ; MYH11},
PDF = {https://hal.science/hal-02927979/file/hal-02927979.pdf},
HAL_ID = {hal-02927979},
HAL_VERSION = {v1},
}