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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. 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
    2. 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
    3. Polycystic Ovaries Are Inherited as an Autosomal Dominant Trait: Analysis of 29 Polycystic Ovary Syndrome and 10 Control Families The Journal of Clinical Endocrinology & Metabolism · 1999 · 63 citations
    4. 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
    5. 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
    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 Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    8. Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. Acta Dermato Venereologica · 1991 · 17 citations
    9. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    10. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    11. Autosomal Dominant Obstructive Sleep Apnea Syndrome Due to the New Variant c.980_984dup in COL1A2: A Case Report Cureus · 2026
    12. Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family Anais Brasileiros de Dermatologia · 2024
    13. Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis 2012
    14. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    15. Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture. Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · 2010
    16. AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS Pediatric Research · 1977
    17. Androgenetic alopecia: An autosomal dominant disorder The American Journal of Medicine · 1995 · 80 citations
    18. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    19. Interventions for preventing the progression of autosomal dominant polycystic kidney disease Cochrane Database of Systematic Reviews · 2024 · 8 citations
    20. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    21. Heterozygous <i>KRT32</i> variant is responsible for autosomal dominant loose anagen hair syndrome 2025
    22. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families Human Genetics · 2010 · 40 citations
    23. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome International Journal of Molecular Medicine · 2013 · 20 citations
    24. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance British Journal of Dermatology · 2012 · 15 citations
    25. [Congenital hereditary hypotrychosis. Generalized autosomal dominant hypotrichosis with pili torti (hypotrichosis congenita hereditaria Marie Unna)]. PubMed · 1979 · 5 citations
    26. A nonsense variant in <i>KRT31</i> is associated with autosomal-dominant monilethrix 2024
    27. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    28. Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression Experimental Dermatology · 1998 · 26 citations
    29. The inheritance of common baldness: Two B or not two B ? Journal of the American Academy of Dermatology · 1984 · 203 citations
    30. Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children Archives of Dermatology · 1992 · 55 citations