Copy number variations associated with fetal congenital kidney malformations
نویسندگان
چکیده
منابع مشابه
Copy-number disorders are a common cause of congenital kidney malformations.
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i....
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2020
ISSN: 1755-8166
DOI: 10.1186/s13039-020-00481-7