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, OrsettaJournal:
Clinical Genetics
DOI:
10.1111/cge.13854
Date:
October, 2020
Fichier:
PDF, 595 KB
2020
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