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3q29 Microduplication syndrome: a new family case of phenotype heterogeneity
- Publication Year :
- 2022
- Publisher :
- Authorea, Inc., 2022.
-
Abstract
- Here, we describe a family case carrier with 3q29 microduplication, a 1.56Mb and 1.68 Mb duplicate region, that was identified by CNV-seq. Different from the common clinical traits of previously reported cases, this family of individuals shows an apparently normal phenotype.
Details
- Database :
- OpenAIRE
- Accession number :
- edsair.doi...........030b635dbbae34209585c5776484b4e2