8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report

Microduplication of chromosome 8q22.1 is mainly associated to Leri's pleonosteosis syndrome phenotype, an extremely rare autosomal dominant disease encompassing the GDF6 and SDC2 genes. To date, most of the authors focus their attention only on skeletal symptoms of the disease, and they do not...

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Detalles Bibliográficos
Autores principales: Gagliano, Antonella, Pironti, Erica, Cucinotta, Francesca, Galati, Cecilia, Maggio, Roberta, Alquino, Maria Ausilia, Di Rosa, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079567/
https://www.ncbi.nlm.nih.gov/pubmed/30123278
http://dx.doi.org/10.1155/2018/3871425

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079567/
https://www.ncbi.nlm.nih.gov/pubmed/30123278
http://dx.doi.org/10.1155/2018/3871425

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