16p11.2 Microduplication Syndrome with Increased Fluid in the Cisterna: Coincidence or Phenotype Extension?

We report the first case of a child with 16p11.2 microduplication syndrome with increased fluid in the cisterna magna seen on magnetic resonance imaging (MRI). This finding may correspond to a Blake’s Pouch Cyst (BPC) or a Mega Cisterna Magna (MCM), being impossible to differentiate through image ex...

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Detalles Bibliográficos
Autores principales: Nascimento, Lívia Polisseni Cotta, Mergener, Rafaella, Nunes, Marcela Rodrigues, Muniz, Victória Feitosa, Catao, Juliana Rossi, da Silveira, Ana Kalise Böttcher, Dorfman, Luiza Emy, Graziadio, Carla, Zen, Paulo Ricardo Gazzola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/
https://www.ncbi.nlm.nih.gov/pubmed/37628634
http://dx.doi.org/10.3390/genes14081583

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454344/
https://www.ncbi.nlm.nih.gov/pubmed/37628634
http://dx.doi.org/10.3390/genes14081583

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