A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

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Abstract Background Cornelia de Lange syndrome (CdLS) is a rare dominantly inherited developmental disorder with an estimated prevalence of 0.5–10:100,000 and no racial disparity in prevalence. The aim of this study was to present two unrelated Chinese CdLS individuals with mutations in NIPBL and to...

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Bibliographic Details
Main Authors: Shuo Li, Hui Miao, Hongbo Yang, Linjie Wang, Fengying Gong, Shi Chen, Huijuan Zhu, Hui Pan
Format: Article
Language:English
Published: Wiley 2020-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Chinese CdLS patients
Cornelia de Lange syndrome
NIPBL mutation
scoring system
Online Access:https://doi.org/10.1002/mgg3.1066

Internet

https://doi.org/10.1002/mgg3.1066

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