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  • Title: Congenital ciliary aplasia in two siblings. A primitive disregulation of ciliogenesis?
    Author: Richard S, Nezelof C, Pfister A, de Blic J, Scheinmann P, Paupe J.
    Journal: Pathol Res Pract; 1989 Aug; 185(2):181-3. PubMed ID: 2798216.
    Abstract:
    Congenital ciliary aplasia was demonstrated in two siblings with clinical history of primary ciliary dyskinesia. Ultrastructural histochemistry of successive bronchial biopsies revealed the predominance of immature mucous cells and the total absence of ciliated or preciliated cells in the respiratory epithelium. This original disorder may represent a unique variant of primary ciliary dyskinesia with primitive disregulation of ciliogenesis.
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