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...

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Detalles Bibliográficos
Autores principales: Gosso, Maria Florencia, Rohr, Cristian, Brun, Bianca, Mejico, Guadalupe, Madeira, Fernanda, Fay, Fabian, Klurfan, Melina, Vazquez, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
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

Internet

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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