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    Research 10 of 553

    1. Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation American Journal Of Pathology · 2002 · 57 citations
    2. Disruption of the temporally regulated cloaca endodermal β-catenin signaling causes anorectal malformations Cell death and differentiation · 2014 · 36 citations
    3. Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD) 2017 · 1 citations
    4. PCSK9: From Nature’s Loss to Patient’s Gain Circulation · 2024
    5. 457 Impact of alpha-melanocyte-stimulating hormone on mitochondrial function in human dermal fibroblasts Journal of Investigative Dermatology · 2025
    6. Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs PLoS ONE · 2012 · 28 citations
    7. Defective trophoblast function in mice with a targeted mutation of Ets2 Genes & Development · 1998 · 301 citations
    8. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    9. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    10. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
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