TY - JOUR AU - Hehr, U; Hehr, A; Uyanik, G; Phelan, E; Winkler, J; Reardon, W TI - A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome JO - J Med Genet IS - 06 VL - 43 PY - 2006 DO - 10.1136/jmg.2005.038505 L3 - PubMed-ID: 16299064 SP - 541 EP - 544 ER -