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Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign

Trisomy 6q is a recognizable syndrome which exhibits psychomotor/growth retardation, developmental/intellectual disabilities, feeding difficulties, facial dysmorphism, hearing loss, brain and heart malformations. The purpose of this study was to delineate the prenatal features of proximal 6q14.1 dup...

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Detalles Bibliográficos
Autores principales:	Yue, Fagui, Zhang, Hongguo, Luo, Lili, Liu, Ruizhi, Jing, Jili
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276112/ https://www.ncbi.nlm.nih.gov/pubmed/35713440 http://dx.doi.org/10.1097/MD.0000000000029369

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