An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis

Edoardo Errichiello, Alessia Arossa, Angela Iasci, Roberta Villa, Benedetta Ischia, Maria Angela Pavesi, Tommaso Rizzuti, Maria Francesca Bedeschi, Orsetta Zuffardi

Research output: Contribution to journalLetterpeer-review

Original languageEnglish
Pages (from-to)628-629
JournalClinical Genetics
Issue number6
Publication statusPublished - 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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