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ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing()
In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype, subte...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205036/ https://www.ncbi.nlm.nih.gov/pubmed/25606380 http://dx.doi.org/10.1016/j.mgene.2013.09.004 |