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Rare copy number variants in the genome of Chinese female children and adolescents with Turner syndrome

Turner syndrome (TS) is a congenital disease caused by complete or partial loss of one X chromosome. Low bone mineral status is a major phenotypic characteristic of TS that can not be fully explained by X chromosome loss, suggesting other autosomal-linked mutations may also exist. Therefore, the pre...

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Detalles Bibliográficos
Autores principales: Li, Li, Li, Qingfeng, Wang, Qiong, Liu, Li, Li, Ru, Liu, Huishu, He, Yaojuan, Lash, Gendie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328875/
https://www.ncbi.nlm.nih.gov/pubmed/30530863
http://dx.doi.org/10.1042/BSR20181305