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    Glossary Apert Syndrome

    genetic disorder causing premature skull bone fusion and syndactyly

    Apert Syndrome is a genetic disorder characterized by the premature fusion of certain skull bones, leading to a distorted shape of the head and face. This condition often results in syndactyly (webbing of fingers and toes) and can be associated with other issues such as hearing loss, vision problems, and intellectual disability. It is caused by mutations in the FGFR2 gene and is typically diagnosed through clinical evaluation and genetic testing.

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    1. Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome Dermatopathology · 2025
    2. Acne-associated syndromes: models for better understanding of acne pathogenesis Journal of The European Academy of Dermatology and Venereology · 2010 · 99 citations
    3. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    4. Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association? Pediatric dermatology · 1997 · 6 citations
    5. Acne and Systemic Diseases European medical journal · 2015 · 1 citations
    6. Commentary 2 Experimental Dermatology · 2005
    7. Clin-Alert Clin-Alert · 2002
    8. Histopathology of non-scarring alopecia Journal of Cutaneous Pathology · 1995 · 122 citations
    9. Acne-Associated Syndromes InTech eBooks · 2017 · 1 citations
    10. Polycystic Ovarian Syndrome - A Pain for Young Women? An Autobiographical Case Studies Acta Scientific Women's Health · 2022
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