A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome (Q43168893)
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scientific article published on 18 November 2005
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome |
scientific article published on 18 November 2005 |
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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 (English)
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Hehr U
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Hehr A
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Uyanik G
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Phelan E
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Winkler J
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Reardon W
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18 November 2005
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