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    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. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    2. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    3. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    4. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    5. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    6. 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
    7. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    8. Identification of a novel<i>PNPLA1</i>mutation in a Spanish family with autosomal recessive congenital ichthyosis British Journal of Dermatology · 2013 · 23 citations
    9. 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
    10. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014 · 15 citations
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