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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Li, Shuo, Miao, Hui, Yang, Hongbo, Wang, Linjie, Gong, Fengying, Chen, Shi, Zhu, Huijuan, Pan, Hui
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2019
Pynciau:
Original Articles
Mynediad Ar-lein: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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