Associated Papers
Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14.
Xu Y et al.
Frontiers in Medicine, 2026
Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.
Liu X et al.
Human Genetics, 2025
A Chinese Patient With Alopecia-Intellectual Disability Syndrome 4 Carrying a Known Missense Variant of LSS Gene and an Unreported Gross Deletion Involving LSS Gene.
Liu H et al.
The Journal of Dermatology, 2025
Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.
Zhang Y et al.
Human Genomics, 2025
Biallelic pathogenic variants in the LSS gene cause congenital alopecia-cataract syndrome.
Chen Y et al.
The Journal of Dermatology, 2025
Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.
Wang Q et al.
Molecular Vision, 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
Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.
Yang F et al.
The Journal of Investigative Dermatology, 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
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
Defect of LSS Disrupts Lens Development in Cataractogenesis.
Zhao M et al.
Frontiers in Cell and Developmental Biology, 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
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Romano MT et al.
American Journal of Human Genetics, 2018
Congenital cataract: a guide to genetic and clinical management.
Bell SJ et al.
Therapeutic Advances in Rare Disease, 0