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information resource reference Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation. Mol Genet Genomic Med. 2014 Nov; 2(6):467-71.
label Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.
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  • FLNA