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

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 perform...

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發表在:Mol Genet Genomic Med
Main Authors: Li, Shuo, Miao, Hui, Yang, Hongbo, Wang, Linjie, Gong, Fengying, Chen, Shi, Zhu, Huijuan, Pan, Hui
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2019
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Original Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7005613/
https://ncbi.nlm.nih.gov/pubmed/31872982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1066
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