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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. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    2. Autosomal recessive woolly hair syndrome: a series of eight patients in an Indian population Skin Health and Disease · 2025
    3. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    4. A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu Genomics · 2006 · 18 citations
    5. Woolly Hair in Two Siblings International Journal of Trichology · 2012
    6. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    7. Monilethrix International Journal of Trichology · 2013 · 4 citations
    8. Congenital and Hereditary Skin Diseases 2018
    9. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    10. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    11. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    12. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Frontiers in Genetics · 2023 · 1 citations
    13. Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis International Journal of Women’s Dermatology · 2024
    14. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    15. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    16. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    17. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    18. Woolly Antics between the Sheaths Journal of Investigative Dermatology · 2009 · 1 citations
    19. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    20. Disorders of Keratinization 2014
    21. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    22. Congenital Hypotrichosis in Japanese White Strain (JW-NIBS) Rabbits. Journal of Toxicologic Pathology · 2000 · 2 citations
    23. Congenital Atrichia: A Case Report International journal of science and healthcare research · 2023
    24. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    25. Mutation des menschlichen hairless -Gens bei Atrichia universalis Der Hautarzt · 1998 · 2 citations
    26. A retrospective study on the characteristics of androgenetic alopecia among Asian races in the National Skin Centre, a tertiary dermatological referral centre in Singapore. PubMed · 2002 · 2 citations
    27. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    28. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    29. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    30. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations