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    Research 91–120 of 1000+

    1. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder Indian dermatology online journal · 2013 · 12 citations
    2. Hair That Is Difficult to Manage in a Hispanic Girl Skin appendage disorders · 2017 · 1 citations
    3. Monilethrix: the use of tricoscopy in clinical diagnosis Medicina · 2016 · 1 citations
    4. Monilethrix: Beaded hair and hypotrichosis in a child Cosmoderma · 2026
    5. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    6. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    7. Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture The American Journal of Human Genetics · 2010 · 97 citations
    8. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    9. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    10. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    11. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    12. Coexistence of Woolly Hair and Monilethrix: A Cases Study Mağallaẗ al-Muẖtar li-l-ʿulūm · 2021
    13. P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses Genetics in Medicine Open · 2024
    14. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    15. A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform Journal of Biological Chemistry · 1997 · 28 citations
    16. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    17. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    18. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    19. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    20. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    21. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    22. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    23. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    24. 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
    25. The medusa head: Dermoscopic diagnosis of woolly hair syndrome International Journal of Trichology · 2012 · 7 citations
    26. Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population Skin Health and Disease · 2025
    27. Sjogren-Larsson syndrome Journal of The American Academy of Dermatology · 2005 · 16 citations
    28. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    29. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    30. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations