Article ID Journal Published Year Pages File Type
8962722 European Journal of Medical Genetics 2018 13 Pages PDF
Abstract
We report a novel patient with the phenotypic characteristics of Schaaf-Yang syndrome. In addition, the patient has a severe chronic digestive malfunction, rendering him dependent on intermittent enteral supplementation. To our knowledge, this is the first report of Schaaf-Yang syndrome associated with severe chronic digestive malfunction manifesting with both a malrotation and signs of a chronic intestinal pseudo-obstruction.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Genetics
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