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JMG.2005.038505
JMG.2005.038505
http://dx.doi.org/10.1136/JMG.2005.038505
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
P356
Q43168893-4E514E91-1EFA-4AA0-A2B0-70145FED8DD3
P356
JMG.2005.038505
http://dx.doi.org/10.1136/JMG.2005.038505