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...

Descripción completa

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

Internet

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

Ejemplares similares