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    Research 10 of 34

    1. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    2. Skin manifestations of Bardet–Biedl syndrome International Journal of Dermatology · 2011 · 4 citations
    3. Morpho-Regulation of Ectodermal Organs ˜The œAmerican journal of pathology · 2004 · 131 citations
    4. Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review Dermatologic Therapy · 2020 · 4 citations
    5. Uncombable hair syndrome and beyond Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.) · 2022
    6. A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice 2008 · 60 citations
    7. Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia Children · 2023 · 4 citations
    8. TONGUE, RED 2006
    9. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    10. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
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