CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation

    Ömer Kartı, Saygın Abalı, Zi̇ya Ayhan, Eylem Gokmeydan, Serhad Nalçacı, Ayli̇n Yaman, Ali Osman Saatçi
    Studysummary This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
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