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    Research 181–210 of 1000+

    1. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations
    2. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    3. Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix International Journal of Dermatology · 2015 · 8 citations
    4. Marie‐Unna Hereditary Hypotrichosis or Autosomal Recessive Hereditary Hypotrichosis with Woolly Hair: The Diagnostic Dilemma of Labeling Cases with Hypotrichosis Pediatric dermatology · 2011 · 2 citations
    5. 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
    6. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    7. Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair Journal of dermatology · 2011 · 7 citations
    8. 190 Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin 2019
    9. Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations British Journal of Dermatology · 2015 · 7 citations
    10. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation American journal of ophthalmology. Case reports · 2017 · 9 citations
    11. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    12. Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits. Journal of Toxicologic Pathology · 2000 · 2 citations
    13. Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report Skin Appendage Disorders · 2020 · 3 citations
    14. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    15. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    16. 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair Journal of Investigative Dermatology · 2016
    17. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat Differentiation · 2004 · 28 citations
    18. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    19. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    20. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    21. Enanthem in Patients With COVID-19 and Skin Rash JAMA Dermatology · 2020 · 91 citations
    22. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    23. Evaluation of hair structural abnormalities in children with different neurological diseases The Turkish Journal of Pediatrics · 2022
    24. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    25. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
    26. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    27. Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy Archives of Ophthalmology · 2012 · 15 citations
    28. Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles Frontiers in genetics · 2022
    29. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    30. BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil British Journal of Dermatology · 2025