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    1. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    2. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability European Journal of Human Genetics · 2015 · 19 citations
    3. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    4. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    5. Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat Animals · 2024 · 15 citations
    6. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    7. A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype ˜The œAmerican journal of pathology · 2014 · 11 citations
    8. A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions Human Genetics · 2019 · 10 citations
    9. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    10. Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness Human Genetics · 2009 · 42 citations
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