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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation

Nicola Brunetti-Pierri1, Maria Torrado2, Maria Del Carmen Fernandez3

  • 1Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

Molecular Genetics & Genomic Medicine
|January 24, 2015
PubMed

Keywords:
FLNAFilamin AX-linked dominantterminal osseous dysplasia with pigmentary defects

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