12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

Abstract Background 12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity -...

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Bibliographic Details
Main Authors: Sofia Dória, Daniela Alves, Maria João Pinho, Joel Pinto, Miguel Leão
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Medical Genomics
Subjects:
Online Access:https://doi.org/10.1186/s12920-019-0653-x