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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Publicat a:Balkan J Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Macedonian Science of Sciences and Arts 2015
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4768829/
https://ncbi.nlm.nih.gov/pubmed/26929909
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2015-0009
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