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...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Brunetti-Pierri, Nicola, Torrado, Maria, Fernandez, Maria del Carmen, Tello, Ana Maria, Arberas, Claudia L, Cardinale, Antonella, Piccolo, Pasquale, Bacino, Carlos A
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Original Articles
Acesso em linha: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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