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    Glossary Monilethrix

    rare genetic condition causing beaded, fragile hair shafts

    Monilethrix is a rare genetic condition that affects the hair shaft, causing it to be beaded or segmented, which makes the hair fragile and prone to breakage. This results in sparse, short, and brittle hair. The condition is usually inherited in an autosomal dominant pattern and can be diagnosed through microscopic examination of the hair.

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    Research 30 of 389

    1. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics · 1997 · 100 citations
    2. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    3. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    4. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix Journal of Medical Genetics · 2005 · 79 citations
    5. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    6. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    7. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13 Human Molecular Genetics · 1995 · 54 citations
    8. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998 · 47 citations
    9. Treatment of monilethrix with oral minoxidil JAAD case reports · 2016 · 37 citations
    10. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    11. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    12. Monilethrix: an ultrastructural study Journal of Cutaneous Pathology · 1984 · 34 citations
    13. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000 · 32 citations
    14. Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6 Journal of Investigative Dermatology · 1999 · 29 citations
    15. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene British Journal of Dermatology · 2011 · 26 citations
    16. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    17. Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression Experimental Dermatology · 1998 · 26 citations
    18. Monilethrix treated with oral retinoids Clinical and experimental dermatology · 1991 · 26 citations
    19. Monilethrix treated with the oral retinoid Ro 10-9359 (Tigason) Clinical and Experimental Dermatology · 1983 · 24 citations
    20. Monilethrix Treated with Minoxidil International Journal of Immunopathology and Pharmacology · 2011 · 23 citations
    21. Monilethrix in pattern distribution in siblings: Diagnosis by trichoscopy International journal of trichology · 2010 · 21 citations
    22. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix Clinical and Experimental Dermatology · 2003 · 21 citations
    23. Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity British Journal of Dermatology · 1997 · 21 citations
    24. Monilethrix: a typical case report with microscopic and dermatoscopic findings 2015 · 20 citations
    25. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations
    26. Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix Experimental Dermatology · 2015 · 18 citations
    27. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    28. 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
    29. Monilethrix: A rare hereditary condition Indian Journal of Dermatology · 2013 · 12 citations
    30. Dermoscopy: A rapid bedside tool to assess monilethrix Indian journal of dermatology, venereology, and leprology · 2015 · 11 citations