Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
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
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
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