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    1. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis Nature Genetics · 2009 · 181 citations
    2. A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family British Journal of Dermatology · 2000 · 36 citations
    3. Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation American Journal of Medical Genetics - Part A · 2010 · 11 citations
    4. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    5. A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis Mammalian genome · 2009 · 21 citations
    6. Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report Journal of the American Academy of Dermatology · 2011 · 14 citations
    7. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript Experimental Dermatology · 2010 · 14 citations
    8. Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature Pediatric dermatology · 2011 · 12 citations
    9. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis The Journal of Dermatology · 2013 · 6 citations
    10. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities Archives of Dermatological Research · 2012 · 6 citations
    11. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    12. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 4 citations
    13. 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
    14. Significant Hair Regrowth With 5% Topical Minoxidil in a Child With Marie Unna Hereditary Hypotrichosis Caused by a Recurrent <i>HRURF</i> Variant Journal of Cosmetic Dermatology · 2025
    15. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    16. Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature Pediatric dermatology · 2011
    17. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    18. Hypotrichosis congenita of Marie Unna European Journal of Dermatology · 2001
    19. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    20. The genetics of hair shaft disorders Journal of The American Academy of Dermatology · 2008 · 59 citations
    21. Office Diagnosis of Hair Shaft Defects Seminars in cutaneous medicine and surgery · 2006 · 33 citations
    22. Hair physiology and its disorders Drug Discovery Today: Disease Mechanisms · 2008 · 31 citations
    23. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    24. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    25. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    26. Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA 2018 · 3 citations
    27. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    28. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    29. Clinical and molecular genetic studies in hereditary hair loss 2021
    30. Polarized microscopy in genetic hair disorders: case series 2025