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A Dual Phenotype of Periventricular Nodular Heterotopia and Frontometaphyseal Dysplasia in One Patient Caused by a Single FLNA Mutation Leading to Two Functionally Different Aberrant Transcripts
Martin Zenker, Anita Rauch, Andreas Winterpacht, Andreas Tagariello, Cornelia Kraus, Thomas Rupprecht, Heinrich Sticht, André ReisVolume:
74
Year:
2004
Language:
english
DOI:
10.1086/383094
File:
PDF, 506 KB
english, 2004