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    Did you mean Localized Autosomal Recessive Hypotrichosis?
    Glossary Localized Autosomal Recessive Hypotrichosis

    genetic condition causing sparse or absent hair in specific areas

    Localized Autosomal Recessive Hypotrichosis is a genetic condition characterized by sparse or absent hair in specific areas of the body. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to exhibit the condition.

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    1. 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
    2. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    3. 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
    4. Homozygous missense mutation in the<i>LIPH</i>gene causing autosomal recessive hypotrichosis simplex in a Chinese patient Journal of dermatology · 2013 · 2 citations
    5. Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family Dermatology Reports · 2011 · 1 citations
    6. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    7. Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations PloS one · 2014 · 15 citations
    8. Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood 2012 · 12 citations
    9. The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 11 citations
    10. Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies 2021 · 9 citations
    11. 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
    12. Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by <i>LIPH</i> Pathogenic Variants JAMA Dermatology · 2020 · 5 citations
    13. Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis Frontiers in Medicine · 2025
    14. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    15. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    16. 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
    17. Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation Journal of dermatological science · 2016
    18. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    19. Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A<i>LIPH</i>mutation 2016 · 12 citations
    20. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    21. 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
    22. Autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations: a case report Frontiers in Medicine · 2025
    23. Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the <i>LIPH</i> gene: a case report Dermatology Reports · 2025
    24. Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations Journal of cosmetic dermatology · 2022
    25. Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis Journal of Dermatological Science · 2016
    26. 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
    27. Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions Journal of Investigative Dermatology · 2006 · 81 citations
    28. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    29. A Missense Mutation in the Cadherin Interaction Site of The Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2005 · 33 citations
    30. Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family 2007 · 25 citations