Associated Papers
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.
Liu X et al.
Human Genetics, 2025
Effective therapy with simvastatin compound ointment in palmoplantar keratoderma induced by lanosterol synthase (LSS) gene variants.
Wang Y et al.
The British Journal of Dermatology, 2025
Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.
Chen Y et al.
The Journal of Dermatology, 2025
Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.
Bao L et al.
Frontiers in Pediatrics, 2025
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.
Tan Y et al.
Molecular Genetics & Genomic Medicine, 2024
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.
Elbendary HM et al.
Clinical Genetics, 2023
A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.
Guo D et al.
American Journal of Medical Genetics. Part A, 2023
A novel compound heterozygous variant in the LLS gene is associated with nonsyndromic hypotrichosis.
Morice-Picard F et al.
Clinical and Experimental Dermatology, 2023
Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.
Zhou S et al.
Experimental Dermatology, 2023
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.
Huang Y et al.
Frontiers in Genetics, 2023
36923788 (PubMed )
Supplement: Table3.xlsx › Sheet1
Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations.
Wang YM et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China.
Zhao B et al.
Frontiers in Physiology, 2022
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
Hua S et al.
The Journal of Dermatology, 2021
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