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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:...
Autores principales: | Lerario, Alberto, Colombo, Irene, Milani, Donatella, Peverelli, Lorenzo, Villa, Luisa, Del Bo, Roberto, Sciacco, Monica, Comi, Giacomo Pietro, Esposito, Susanna, Moggio, Maurizio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2016
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Materias: | |
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 |
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