Associated Papers
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
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
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M et al.
Annals of Human Genetics, 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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