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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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    Research 30 of 1000+

    1. Androgenetic alopecia: An autosomal dominant disorder The American Journal of Medicine · 1995 · 80 citations
    2. The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region American Journal of Medical Genetics · 1997 · 39 citations
    3. 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
    4. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    5. Disorders of pigmentation in infants and children Clinics in Dermatology · 2002 · 2 citations
    6. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    7. SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature Pigment Cell & Melanoma Research · 2025 · 1 citations
    8. Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report Cureus · 2026
    9. 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
    10. 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
    11. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    12. Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless Journal of Investigative Dermatology · 2000 · 29 citations
    13. 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
    14. Monilethrix: A rare hereditary condition Indian Journal of Dermatology · 2013 · 12 citations
    15. Monilethrix The Journal of Pediatrics · 2012 · 6 citations
    16. Marie-unna hereditary hypotrichosis International Journal of Trichology · 2014 · 4 citations
    17. Pearly Pinna Papules in a Young Female Indian dermatology online journal · 2023
    18. Hair Shaft Defect in a Teenage Girl: Trichoscopy Saves the Day! Dermatology practical & conceptual · 2020
    19. Common genetic hair shaft abnormalities may be visualized by light and electron microscope Global Dermatology · 2019
    20. Coexistence of Woolly Hair and Monilethrix: A Cases Study Mağallaẗ al-Muẖtar li-l-ʿulūm · 2021
    21. Monilethrix in three generations Indian Journal of Dermatology · 2008 · 6 citations
    22. Masquerading of trichotillomania in a family with monilethrix European Journal of Dermatology · 2011 · 6 citations
    23. Spangled hair in siblings International Journal of Trichology · 2009 · 5 citations
    24. Monilethrix International Journal of Trichology · 2013 · 4 citations
    25. Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz Acta dermato-venereologica · 2018 · 1 citations
    26. Sparse Brittle Hair and Bilateral Temporal Alopecia in a Child Dermatology Practical & Conceptual · 2025
    27. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    28. Hypotrichosis and Hair Loss on the Occipital Scalp Cutis · 2023
    29. Monilethrix – Case report of a rare disease Nasza Dermatologia Online · 2015
    30. ST Premature Graying Hair in Seven Years Old Children Jurnal Biomedika dan Kesehatan · 2024