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    Research 7

    1. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair Journal of dermatology · 2011 · 7 citations
    2. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    3. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    4. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    5. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    6. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    7. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025

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