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    1. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants JAMA Dermatology · 2020 · 5 citations
    2. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    3. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    4. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    5. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    6. 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 Frontiers in Genetics · 2025
    7. Faculty Opinions recommendation of Association of topical minoxidil with autosomal recessive woolly hair/hypotrichosis caused by LIPH pathogenic variants. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2020
    8. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    9. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    10. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
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