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Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication

BACKGROUND: Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G‐banding karyotype...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Gene Med
Egile Nagusiak: Wang, Hong‐Dan, Liu, Lin, Wu, Dong, Li, Tao, Cui, Cun‐Ying, Zhang, Lian‐Zhong, Wang, Cheng‐Zeng
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: John Wiley and Sons Inc. 2017
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5413856/
https://ncbi.nlm.nih.gov/pubmed/28220983
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jgm.2948
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