Browsing by Subject "Duplicação cromossômica"
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Candidate genes associated with neurological findings in a patient with trisomy 4p16.3 and monosomy 5p15.2
(2020) [Journal article]In this report, we present a patient with brain alterations and dysmorphic features associated with chromosome duplication seen in 4p16.3 region and chromosomal deletion in a critical region responsible for Cri-du-chat ... -
New microdeletion and microduplication syndromes : a comprehensive review
(2014) [Journal article]Several new microdeletion and microduplication syndromes are emerging as disorders that have been proven to cause multisystem pathologies frequently associated with intellectual disability (ID), multiple congenital anomalies ...