Article

Leveraging Clinical, Functional, Molecular and Population Genetic Data Reveals Genotype Phenotype Association and Health Disparity in a Monogenic Disorder, CTX

2024-04-16

Abstract excerpt

Cerebrotendinous Xanthomatosis (CTX) is a lipid storage disease caused by recessively inherited pathogenic variants in CYP27A1 (OMIM 213700). The classic clinical presentation includes infantile-onset chronic diarrhea, juvenile-onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction. These multisystem clinical features typically appear in different decades of life...

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Literature Corpus work: 984f9d01-e68c-554c-a79e-b460facce567
DOI: 10.1101/2024.04.15.24305853

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