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    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. 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
    2. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    3. 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
    4. 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
    5. Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats Journal of Investigative Dermatology Symposium Proceedings · 2005 · 13 citations
    6. Novel D323G mutation of <i>DSG4</i> gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix International Journal of Dermatology · 2015 · 8 citations
    7. 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
    8. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    9. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    10. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene Genomics · 2004 · 50 citations
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