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    Did you mean Autosomal Recessive?
    Glossary Autosomal Recessive

    inheritance requires two copies of a mutated gene

    Autosomal recessive refers to a pattern of inheritance where a person must inherit two copies of a mutated gene, one from each parent, to express a particular trait or disorder. If an individual has only one copy of the mutated gene, they are considered a carrier and typically do not show symptoms. This type of inheritance is common in many genetic disorders, such as cystic fibrosis and sickle cell anemia.

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    1. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation European Journal of Dermatology · 2010 · 11 citations
    2. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    3. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    4. A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient Journal of Dermatological Science · 2009 · 13 citations
    5. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    6. Novel splice site mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review The Journal of Dermatology · 2018 · 9 citations
    7. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    8. Novel small‐insertion mutation in the <i>LIPH</i> gene in a patient with autosomal recessive woolly hair/hypotrichosis Journal of dermatology · 2020 · 1 citations
    9. Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report Dermatology Reports · 2025
    10. Case of autosomal recessive woolly hair/hypotrichosis with compound heterozygous mutations in the <i>LIPH</i> gene at c.742C > A and c.614A > G: The first Japanese case Journal of dermatology · 2023
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