Associated Papers
Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.
Chen Y et al.
The Journal of Dermatology, 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
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Matza Porges S et al.
European Journal of Medical Genetics, 2023
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
Biallelic mutations in LSS in autosomal-recessive mutilating palmoplantar keratoderma.
Zhou S et al.
Experimental Dermatology, 2023
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
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Cesarato N et al.
American Journal of Medical Genetics. Part A, 2021
Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.
Murata M et al.
The Journal of Dermatology, 2021
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.
Hua S et al.
The Journal of Dermatology, 2021
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
Wada Y et al.
Plos Genetics, 2020
Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.
El Hakim J et al.
Pediatric Dermatology, 0
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