Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report

Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report

BackgroundLanosterol synthase (LSS) is essential for cholesterol biosynthesis and impacts embryonic development and growth. LSS gene variants have been associated with various conditions such as congenital hypotrichosis and cataracts, but the genotype-phenotype relationship remains not well understo...

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Bibliographic Details
Main Authors: Linlin Bao, Qian Li, Zhicao Yue, Fang Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-04-01
Series:Frontiers in Pediatrics
Subjects:
genetic diagnosis
hypotrichosis
strabismus
LSS
genotype-phenotype
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1512646/full
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