A case report with the peculiar concomitance of 2 different genetic syndromes

RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS:...

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Detalles Bibliográficos
Autores principales: Lerario, Alberto, Colombo, Irene, Milani, Donatella, Peverelli, Lorenzo, Villa, Luisa, Del Bo, Roberto, Sciacco, Monica, Comi, Giacomo Pietro, Esposito, Susanna, Moggio, Maurizio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2016
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266037/
https://www.ncbi.nlm.nih.gov/pubmed/27930565
http://dx.doi.org/10.1097/MD.0000000000005567

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266037/
https://www.ncbi.nlm.nih.gov/pubmed/27930565
http://dx.doi.org/10.1097/MD.0000000000005567

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