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

por Brunetti-Pierri, Nicola, Torrado, Maria, Fernandez, Maria del Carmen, Tello, Ana Maria, Arberas, Claudia L, Cardinale, Antonella, Piccolo, Pasquale, Bacino, Carlos A
Publicado 2014