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Clinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients

BACKGROUND: Williams–Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23. METHODS: We screened 38 Chinese Han patients with suspected WBS using chromosomal microar...

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Detalles Bibliográficos
Autores principales:	Xia, Yu, Huang, Shufang, Wu, Yueheng, Yang, Yongchao, Chen, Shaoxian, Li, Ping, Zhuang, Jian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393686/ https://www.ncbi.nlm.nih.gov/pubmed/30565396 http://dx.doi.org/10.1002/mgg3.517

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