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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Detalles Bibliográficos
Autores principales: STREATA, IOANA, RIZA, ANCA-LELIA, SOSOI, SIMONA, BURADA, FLORIN, IOANA, MIHAI
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445637/
https://www.ncbi.nlm.nih.gov/pubmed/32874693
http://dx.doi.org/10.12865/CHSJ.46.02.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7445637/
https://www.ncbi.nlm.nih.gov/pubmed/32874693
http://dx.doi.org/10.12865/CHSJ.46.02.14

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