ISSN: 2640-7876 Open Access Global Journal of Rare Diseases

Global Journal of Rare Diseases

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    The case number 52 of Ruprecht Majewski-Bosma syndrome associated with atrial septal defect

    DOI Logo 10.17352/2640-7876.000019

    Published On: February 28, 2020 | Pages: 001 - 003

    Author(s): Aamir Jalal Al Mosawi*
    Background: Ruprecht Majewski-Bosma syndrome is an extremely rare dysmorphic syndrome results from severe hypoplasia of the nose and eyes occurring in association with palatal abnormalities. It is characterized by congenital complete nasal agenesis (Bilateral aplasia of the nose), microphthalmia including clinical anophthalmia, hypertelorism and other eye defects, hig ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos
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