Associated Papers
Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree.
Zhang X et al.
Frontiers in Genetics, 2025
Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients.
Cui C et al.
Clinical, Cosmetic and Investigational Dermatology, 2025
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the LIPH gene at c.742C > A and c.614A > G: The first Japanese case.
Yamaguchi N et al.
The Journal of Dermatology, 2023
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H et al.
The Journal of Dermatology, 2020
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).
Chang XD et al.
Mutagenesis, 2017
Select a paper to view details