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    Did you mean Autosomal Dominant Disorder?
    Glossary Autosomal Dominant Disorder

    one mutated gene from either parent causes the condition

    An Autosomal Dominant Disorder is a genetic condition where only one copy of a mutated gene, inherited from either parent, is sufficient to cause the disorder. This means that if one parent has the disorder, there is a 50% chance that their child will inherit the condition. Examples include Huntington's disease and Marfan syndrome.

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    1. 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
    2. Androgenetic alopecia: An autosomal dominant disorder The American Journal of Medicine · 1995 · 80 citations
    3. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    4. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    5. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    6. Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6 Human Heredity · 2000 · 32 citations
    7. Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix Chinese Medical Journal · 2013 · 4 citations
    8. Two females with hair loss Journal der Deutschen Dermatologischen Gesellschaft · 2019
    9. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    10. Clinical and molecular genetic studies in hereditary hair loss 2021
    11. Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz Acta dermato-venereologica · 2018 · 1 citations
    12. Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child Dermatology Practical & Conceptual · 2025
    13. ST Premature Graying Hair in Seven Years Old Children Jurnal Biomedika dan Kesehatan · 2024
    14. Hypotrichosis and Hair Loss on the Occipital Scalp Cutis · 2023
    15. Coexistence of Woolly Hair and Monilethrix: A Cases Study Mağallaẗ al-Muẖtar li-l-ʿulūm · 2021
    16. Spangled hair in siblings International Journal of Trichology · 2009 · 5 citations
    17. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    18. Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day! Dermatology practical & conceptual · 2020
    19. 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
    20. Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012 · 39 citations
    21. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017 · 33 citations
    22. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    23. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003 · 10 citations
    24. Masquerading of trichotillomania in a family with monilethrix European Journal of Dermatology · 2011 · 6 citations
    25. Monilethrix in three generations Indian Journal of Dermatology · 2008 · 6 citations
    26. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    27. Monilethrix The Journal of Pediatrics · 2012 · 6 citations
    28. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    29. Informàtica i Dret penal: Els delictes relatius a la informàtica Studia iuridica · 1996
    30. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations