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Phenotype Heterogeneity in 3q29 Microduplication Syndrome

3q29 microduplication syndrome is characterized by widely variable clinical presentation, but generally mild features. Developmental delay, particularly speech, and intellectual disability, eye abnormalities and heart defects are more frequently seen in affected individuals, although it is difficult...

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Dettagli Bibliografici
Pubblicato in:Curr Health Sci J
Autori principali: STREATA, IOANA, RIZA, ANCA-LELIA, SOSOI, SIMONA, BURADA, FLORIN, IOANA, MIHAI
Natura: Artigo
Lingua:Inglês
Pubblicazione: Medical University Publishing House Craiova 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7445637/
https://ncbi.nlm.nih.gov/pubmed/32874693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12865/CHSJ.46.02.14
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