Article

Hypotrichosis 14: Novel variants of the LSS gene in five Chinese families and insights from literature review

2025-04-02

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Congenital hypotrichosis 14 is a non-syndromic form of alopecia associated with mutations in the lanosterol synthase (<italic>LSS</italic>) gene. Recent studies have expanded the spectrum of <italic>LSS</italic>-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome, and palmoplantar keratoderma. Currently, investigations i...

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Literature Corpus work: 2f2c9c02-9425-5fa5-bdd5-ed0f23f0196f
DOI: 10.21203/rs.3.rs-6267099/v1

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