Journal of Pediatric Neurology

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Hehr U, Hehr A, Uyanik G, Phelan E, Winkler J, Reardon W.
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.

J Med Genet 2006;
43 (06) 541-544

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