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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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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Detalles Bibliográficos
Autores principales: Li, Shuo, Miao, Hui, Yang, Hongbo, Wang, Linjie, Gong, Fengying, Chen, Shi, Zhu, Huijuan, Pan, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005613/
https://www.ncbi.nlm.nih.gov/pubmed/31872982
http://dx.doi.org/10.1002/mgg3.1066
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