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

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

Abstract Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome...

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Bibliographic Details
Main Authors: Yujing Zhang, Mengxi Zhao, Xiangqian Li, Yongping Zhao, Yijie Sun, Jianzhong Zhang, Cong Yu, Cheng Zhou
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Human Genomics
Subjects:
Hypotrichosis 14
Alopecia
LSS
Gene
Pathogenic variants
Lanosterol synthase
Online Access:https://doi.org/10.1186/s40246-025-00798-7
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