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    Glossary Marie Unna Hereditary Hypotrichosis

    rare genetic disorder causing sparse or absent hair growth

    Marie Unna Hereditary Hypotrichosis (MUHH) is a rare genetic disorder characterized by abnormal hair growth, leading to sparse or absent hair on the scalp and other parts of the body. It is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene is necessary for the condition to manifest.

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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. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    3. 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
    4. 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
    5. Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript Experimental Dermatology · 2010 · 14 citations
    6. Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature Pediatric dermatology · 2011 · 12 citations
    7. 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
    8. Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis The Journal of Dermatology · 2013 · 6 citations
    9. 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
    10. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    11. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 4 citations
    12. 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
    13. 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
    14. Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report European Journal of Dermatology · 2018
    15. Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature Pediatric dermatology · 2011
    16. 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
    17. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    18. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    19. Clinical and molecular genetic studies in hereditary hair loss 2021
    20. Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA 2018 · 3 citations
    21. Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity Clinical Cosmetic and Investigational Dermatology · 2025
    22. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    23. Odd-Looking Hair and Progressive Alopecia in Mother and Son JAMA Dermatology · 2014
    24. Polarized microscopy in genetic hair disorders: case series 2025
    25. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    26. Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern Journal der Deutschen Dermatologischen Gesellschaft · 2004 · 30 citations
    27. The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse Stem cell research & therapy · 2022 · 2 citations
    28. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    29. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    30. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations