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- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort
- <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case
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