Article

Abnormal Meibum Is Associated With <i>SREBF1</i> Mutation And IFAP Syndrome-2

2025-07-27

Abstract excerpt

The X-linked Ichthyosis Follicularis, Alopecia, and Photophobia syndrome type-2 (IFAP-2), is a condition that has been linked to a c.1579C>T mutation in the SREBF1 gene. However, the molecular implications of the mutation in Meibomian glands (MG) remain unknown. The goals of our project were to elucidate the biochemical factors associated with IFAP-2 and develop approaches for unbiased diagnosing this condition. M...

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Literature Corpus work: 64405cb0-6555-5b0f-8e42-4984958aa77d
DOI: 10.1101/2025.07.25.25332204

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