The “old theme” of variability versus transitory phenotypes in thanatophoric dysplasia type 1: Two 19-week-old fetuses with (“San Diego” variant) and without ragged metaphyses due to the same FGFR3 mutation

Authors

  • Marco Castori,

    Corresponding author
    1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    • Correspondence to:

      Marco Castori, M.D., Ph.D., Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circonvallazione Gianicolense 87, Rome 00152, Italy.

      E-mail: mcastori@scamilloforlanini.rm.it

    Search for more papers by this author
  • Silvia Morlino,

    1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    Search for more papers by this author
  • Francesca Clementina Radio,

    1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    Search for more papers by this author
  • Carmelilia De Bernardo,

    1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    Search for more papers by this author
  • Paola Grammatico

    1. Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy
    Search for more papers by this author

  • Conflict of interest: none.

No abstract is available for this article.

Ancillary