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Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

BACKGROUND: Several studies have reported on the clinical phenotype of the 17q12 microduplication syndrome, a rare autosomal dominant genetic disorder, in children and adults, but few have reported on its prenatal diagnosis. This study analyzed the prenatal ultrasound phenotypes of the 17q12 microdu...

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Detalles Bibliográficos
Autores principales: Cai, Meiying, Lin, Min, Guo, Nan, Fu, Meimei, Xu, Liangpu, Lin, Na, Huang, Hailong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9399630/
https://www.ncbi.nlm.nih.gov/pubmed/36034547
http://dx.doi.org/10.3389/fped.2022.910497