Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

The chromosomal region 17p13.3 contains extensive repetitive sequences and is a well-recognized region of genomic instability. The 17p13.3 microduplication syndrome has been associated with a clinical spectrum of moderately non-specific phenotypes, including global developmental delay/intellectual d...

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Detalles Bibliográficos
Autores principales: Da Silva, Jorge Diogo, Gonzaga, Diana, Barreta, Ana, Correia, Hildeberto, Fortuna, Ana Maria, Soares, Ana Rita, Tkachenko, Nataliya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775100/
https://www.ncbi.nlm.nih.gov/pubmed/36551834
http://dx.doi.org/10.3390/biomedicines10123078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9775100/
https://www.ncbi.nlm.nih.gov/pubmed/36551834
http://dx.doi.org/10.3390/biomedicines10123078

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