Associated Papers
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
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 Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2.
Yang F et al.
The Journal of Investigative Dermatology, 2022
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