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

doi:10.1111/cge.13854

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 journal › Letter › peer-review

Original language	English
Pages (from-to)	628-629
Journal	Clinical Genetics
Volume	98
Issue number	6
DOIs	https://doi.org/10.1111/cge.13854
Publication status	Published - 2020

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1111/cge.13854

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An additional piece in the TBX6 gene dosage model : A novel nonsense variant in a fetus with severe spondylocostal dysostosis. / Errichiello, Edoardo; Arossa, Alessia ; Iasci, Angela; Villa, Roberta; Ischia, Benedetta; Pavesi, Maria Angela; Rizzuti, Tommaso ; Bedeschi, Maria Francesca; Zuffardi, Orsetta.

In: Clinical Genetics, Vol. 98, No. 6, 2020, p. 628-629.

Research output: Contribution to journal › Letter › peer-review

Errichiello, Edoardo ; Arossa, Alessia ; Iasci, Angela ; Villa, Roberta ; Ischia, Benedetta ; Pavesi, Maria Angela ; Rizzuti, Tommaso ; Bedeschi, Maria Francesca ; Zuffardi, Orsetta. / An additional piece in the TBX6 gene dosage model : A novel nonsense variant in a fetus with severe spondylocostal dysostosis. In: Clinical Genetics. 2020 ; Vol. 98, No. 6. pp. 628-629.

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

ASJC Scopus subject areas

Access to Document

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