Maura Masciadri Anna Ficcadenti Donatella Milani Francesca Cogliati Maria Teresa Divizia Lidia Larizza Silvia Russo
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Front Neurol
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cornelia de lange familial inheritance intronic variant mild phenotype recurrent variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/30538663/
Case Reports
PMC6277459
30538663
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
2018