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A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report
BACKGROUND: Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases,...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267682/ https://www.ncbi.nlm.nih.gov/pubmed/22214275 http://dx.doi.org/10.1186/1755-8166-5-1 |