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Afficher la notice complèteDeep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
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EN
Article de revue
Ce document a été publié dans
Human Mutation. 2022-12-01, vol. 43, n° 12, p. 1882-1897
Résumé en anglais
Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA ...Lire la suite >
Mots clés
Clustered mutations
Cornelia de Lange syndrome
Kataegis
Neurodevelopmental disorder
NIPBL
Noncoding sequence
Whole genome sequencing