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
40417239 (PubMed )
Supplement: DataSheet1.pdf
In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis.
Khan HA et al.
Pharmaceuticals (basel, Switzerland), 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
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.
Mehmood S et al.
The Australasian Journal of Dermatology, 2015
Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair.
Yoshimasu T et al.
The Journal of Dermatology, 2011
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis.
Shimomura Y et al.
Journal of Dermatological Science, 2009
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
Naz G et al.
Journal of Dermatological Science, 2009
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