Work

Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family

Year: 2024

Type: article

Abstract: Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese familyHypotrichosis simplex is a rare autosomal recessive abnormality characterized by hair loss disorder, typically manifesting in infancy or early childhood causing significant psychological impact on patients.Research suggests a link to mutations in the LSS gene encoding lanosterol synthase, an enzyme that converts (S)-2,3-oxidosqualene to lanosterol.1-4 Here, we report a pediatric case of hypotrichosis

Source: Journal of Cosmetic Dermatology

DOI: 10.1111/jocd.16530

Authors: Linfang Yang, Shengjie Li, Mengmeng Yao, Shibin Jiang, Fang Cheng, Xinmiao Jia

Institutions: Xingtai People's Hospital, Peking Union Medical College Hospital

Language: English

Topic: Hair Growth and Disorders

Subfield: Urology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $2,500