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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
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