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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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Détails bibliographiques
Publié dans:Curr Health Sci J
Auteurs principaux: STREATA, IOANA, RIZA, ANCA-LELIA, SOSOI, SIMONA, BURADA, FLORIN, IOANA, MIHAI
Format: Artigo
Langue:Inglês
Publié: Medical University Publishing House Craiova 2020
Sujets:
Accès en ligne: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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