Article
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Molecular genetics and metabolism - 1 Nov 2021
Daykin Emily, Fleischer Nicole, Abdelwahab Magy, Hassib Nehal, Schiffmann Raphael, Ryan Emory, Sidransky Ellen
Abstract excerpt
Gaucher disease (GD) is a rare lysosomal storage disorder that is divided into three subtypes based on presentation of neurological manifestations. Distinguishing between the types has important implications for treatment and counseling. Yet, patients with neuronopathic forms of GD, types 2 and 3, often present at young ages and can have overlapping phenotypes. It has been shown that new technologies employing...
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