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
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 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
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
Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.
Tayoun T et al.
Jci Insight, 2022
35511434 (PubMed )
Supplement: jciinsight-7-155804-s148.xlsx › All_mut_CDX
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
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
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT et al.
American Journal of Human Genetics, 2018
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