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

Marco Castori, Silvia Morlino, Francesca Clementina Radio, Carmelilia De Bernardo, Paola Grammatico

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)2675-2677
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Issue number10
Publication statusPublished - Oct 2013

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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