Poland-möbius syndrome: a case report implicating a novel mutation of the

HIGHLIGHTS

  • who: Graeme E. Glass from the (UNIVERSITY) have published the paper: Poland-Mu00f6bius syndrome: a case report implicating a novel mutation of the, in the Journal: (JOURNAL)
  • what: For the first time, the authors report a case of PMS associated with a novel mutation in the PLXND1 gene (NM_015103.3) and compare this with the mutations observed in the PLXND1 gene in isolated Mu00f6bius syndrome. The authors evaluate the literature to place this finding in the context of what is already known about the genetic associations of PMS. In doing so it provides additional evidence . . .

     

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