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Article

Facial features of lysosomal storage disorders.

Expert review of endocrinology & metabolism - 1 Nov 2022

D'Souza Andrea, Ryan Emory, Sidransky Ellen

Abstract excerpt

INTRODUCTION: The use of facial recognition technology has diversified the diagnostic toolbelt for clinicians and researchers for the accurate diagnoses of patients with rare and challenging disorders. Specific identifiers in patient images can be grouped using artificial intelligence to allow the recognition of diseases and syndromes with similar features. Lysosomal storage disorders are rare, and some have...

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PMID: 36384353
DOI: 10.1080/17446651.2022.2144229
PMCID: PMC9817214

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