article_metadata: Maura Masciadri Anna Ficcadenti Donatella Milani Francesca Cogliati Maria Teresa Divizia Lidia Larizza Silvia Russo
article_metadata: 10.3389/fneur.2018.00967
article_metadata: Front Neurol
article_metadata: 2018 Nov 27;9:967.
article_metadata: cornelia de lange familial inheritance intronic variant mild phenotype recurrent variant
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30538663/
article_metadata: Case Reports
article_metadata: PMC6277459
article_metadata: 30538663
article_metadata: Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS
article_metadata: 2018