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
Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants.
Kang Q et al.
Frontiers in Neuroscience, 2024
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
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM et al.
Journal of Molecular Neuroscience : Mn, 2022
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
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 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
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M et al.
Annals of Human Genetics, 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
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Select a paper to view details