An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
Edoardo ErrichielloAlessia ArossaAngela IasciRoberta VillaBenedetta IschiaMaria Angela PavesiTommaso RizzutiMaria Francesca BedeschiOrsetta ZuffardiPublished in: Clinical genetics (2020)