Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference21 articles.
1. Topical cholesterol/lovastatin for the treatment of porokeratosis: a pathogenesis-directed therapy;Atzmony;J Am Acad Dermatol,2020
2. 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;Genet Med,2019
3. MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders;Caengprasath;J Transl Med,2021
4. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2;Castori;Clin Exp Dermatol,2016
5. Congenital cataract with LSS gene mutations: a new case report;Chen;J Pediatr Endocrinol Metab,2017
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2. Pseudoainhum and universal alopecia;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2024-06-23
3. Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics;European Journal of Medical Genetics;2023-10
4. A case of LSS‐associated congenital nuclear cataract with hypotrichosis and literature review;American Journal of Medical Genetics Part A;2023-07-17
5. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits;Clinical Genetics;2023-05-09
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