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Genetic analysis of 55 cases with fetal skeletal dysplasia

BACKGROUND: Fetal skeletal dysplasia (SD) is a common congenital disability comprising a complex group of skeletal disorders with substantial clinical and genetic heterogeneity. Many of these defects are detected prenatally using ultrasound (US). However, the diagnostic accuracy of the US is limited...

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Detalles Bibliográficos
Autores principales:	Bai, Ying, Sun, Yue, Liu, Ning, Wang, Li, Jiao, Zhihui, Hou, Yaqin, Duan, Huikun, Li, Qianqian, Zhu, Xiaofan, Meng, Jingjing, Kong, Xiangdong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9648031/ https://www.ncbi.nlm.nih.gov/pubmed/36352425 http://dx.doi.org/10.1186/s13023-022-02559-4

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