Case Report: Compound Heterozygous Variants in LSS and TSPEAR Genes Causing Hypotrichosis Type 14 Complicated with Ectodermal Dysplasia Type 14

January 2026 in “ Frontiers in Medicine ”

Yonglong Xu, Dingquan Yang, Ying Xie, Qingwu Liu, Shuying Lv, Meijiao Du, L Wang

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Research cited in this study

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research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.