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
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.
Frontiers in Medicine, 2025
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
Yanagida K et al.
Human Molecular Genetics, 2023
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.
Piquer-García J et al.
International Journal of Dermatology, 2021
A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient.
Kurban M et al.
Journal of Dermatological Science, 2010
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