uORF‐introducing variants in the 5′UTR of the <i>NIPBL</i> gene as a cause of Cornelia de Lange syndrome-Reference-Cited by-同舟云学术

uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome

Published:2022-05-17 Issue:9 Volume:43 Page:1239-1248
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Coursimault Juliette¹^ORCID,Rovelet‐Lecrux Anne¹^ORCID,Cassinari Kévin¹^ORCID,Brischoux‐Boucher Elise²^ORCID,Saugier‐Veber Pascale¹^ORCID,Goldenberg Alice¹^ORCID,Lecoquierre François¹^ORCID,Drouot Nathalie¹,Richard Anne‐Claire¹,Vera Gabriella¹,Coutant Sophie¹,Quenez Olivier¹^ORCID,Rolain Marion¹,Bonnet Céline³,Bronner Myriam³^ORCID,Lecourtois Magalie¹^ORCID,Nicolas Gaël¹^ORCID

Affiliation:

1. Department of Genetics and Reference Center for Developmental Disorders Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, FHU G4‐Génomique Rouen France

2. Centre de Génétique Humaine, Université de Franche‐Comté, CHU Besançon Besançon France

3. Department of Genetics Nancy University Hospital Nancy France

Funder

European Regional Development Fund

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24384

Reference29 articles.

1. Gene Expression Regulation by Upstream Open Reading Frames and Human Disease