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Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
BACKGROUND: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China. METHODS: This is an observational study. Suspected patients were referred for fu...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815176/ https://www.ncbi.nlm.nih.gov/pubmed/29452578 http://dx.doi.org/10.1186/s12887-018-1004-3 |