Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
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DOI: 10.1080/13816810.2018.1432065
Abstract: ABSTRACT Background: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions… read more here.
Keywords: syndrome martsolf; martsolf syndrome; micro syndrome; warburg micro ... See more keywords