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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
- 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
Citation
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
April 27, 2016
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Copyright 2006 Journal of Medical Genetics