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

    May 2025 in “ Frontiers in Genetics
    Xinyue Zhang, Kexin Guo, J.‐W. Liu, Xueting Yang, Rui Zhang, Rongrong Wang, Dong‐Lai Ma, Xue Zhang
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    Studysummary This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
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