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    1. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    2. Modelling androgen synthesis and action during human sexual differentiation ePrints Soton (University of Southampton) · 2010
    3. Coordinating the Sculptors: Ectodysplasin-A (EDA) Signaling Cross-Talk with Skeletogenic Pathways Preprints.org · 2025
    4. Alternative androgen pathways WikiJournal of Medicine · 2023
    5. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair Nature genetics · 2008 · 210 citations
    6. 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
    7. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    8. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    9. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    10. 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
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