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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation
Terminal osseous dysplasia with pigmentary defects (TODPD) is an X-linked dominant syndrome with distal limb anomalies, pigmentary skin defects, digital fibromas, and generalized bone involvement due to a recurrent mutation in the filamin A (FLNA) gene. We here report the mutation c.5217G>A in FL...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BlackWell Publishing Ltd
2014
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4303216/ https://ncbi.nlm.nih.gov/pubmed/25614868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.90 |
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