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Exome-first approach identified novel INDELs and gene deletions in Mowat-Wilson Syndrome patients
Mowat-Wilson syndrome (MWS) is characterized by severe intellectual disability, absent or impaired speech and microcephaly, with a gradual post-natal onset. The syndrome is often confused with other Angelman-like syndromes (ALS) during infancy, but in older children and adults, the characteristic fa...
Autores principales: | Gosso, Maria Florencia, Rohr, Cristian, Brun, Bianca, Mejico, Guadalupe, Madeira, Fernanda, Fay, Fabian, Klurfan, Melina, Vazquez, Martin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070557/ https://www.ncbi.nlm.nih.gov/pubmed/30083364 http://dx.doi.org/10.1038/s41439-018-0021-y |
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