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Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter)

This study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis...

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Detalles Bibliográficos
Autores principales: Li, Y, Choy, K-W, Xie, H-N, Chen, M, He, W-Y, Gong, Y-F, Liu, H-Y, Song, Y-Q, Xian, Y-X, Sun, X-F, Chen, X-J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4768829/
https://www.ncbi.nlm.nih.gov/pubmed/26929909
http://dx.doi.org/10.1515/bjmg-2015-0009