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A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome
  1. Correspondence to:
 Dr Ute Hehr
 Center for Human Genetics, am Universitätsklinikum, D3, Franz-Josef-Strauss-Allee II, 93053 Regensburg, Germany; ute.hehr{at}humangenetik-regensburg.de
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Citation

Hehr U, Hehr A, Uyanik G, et al
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

Publication history

  • Accepted November 8, 2005
  • Revised November 4, 2005
  • First published November 18, 2005.
Online issue publication 
June 01, 2006

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