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  5. Microphthalmia- syndromic 2

Microphthalmia- syndromic 2

December 31, 2014

Latest Research

  • A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
  • A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report
  • A Novel Frameshift Variant of the <em>MITF</em> Gene in a Chinese Family with Waardenburg Syndrome Type 2
  • A novel mutation in RAB3GAP1 gene in Chinese patient causing the Warburg micro syndrome: A case report
  • A potential molecular pathogenesis of cardiac/laterality defects in Oculo-Facio-Cardio-Dental syndrome
More Research
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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