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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
    11. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    12. Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome? Pediatric dermatology · 2004 · 13 citations
    13. Recently Identified Forms of Epidermolysis Bullosa 2015 · 39 citations
    14. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations
    15. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    16. Siberian cats help in solving part of the mystery surrounding golden cats Animal Genetics · 2021 · 7 citations
    17. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    18. Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients Clinical Cosmetic and Investigational Dermatology · 2025
    19. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    20. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    21. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    22. Reply Journal of Investigative Dermatology · 2000 · 1 citations
    23. Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 American journal of medical genetics. Part A · 2022
    24. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    25. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    26. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    27. Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report Journal of Chittagong Medical College Teachers Association · 2026
    28. Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair Journal of Investigative Dermatology · 2017 · 10 citations
    29. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    30. Ugreelig hår Tidsskrift for Den norske legeforening · 2022 · 1 citations