Associated Papers
Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report.
Alwunais K et al.
Dermatology Reports, 2025
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
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
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
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood.
Tanahashi K et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair.
Tariq M et al.
Scientific Reports, 2012
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 LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan.
Khan S et al.
Clinical and Experimental Dermatology, 2011
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp.
Nahum S et al.
Clinical and Experimental 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
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair.
Horev L et al.
Journal of the American Academy of Dermatology, 2009
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).
Naz G et al.
Journal of Dermatological Science, 2009
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.
Shimomura Y et al.
The Journal of Investigative Dermatology, 2009