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Neurological expression of an inherited translocation of chromosomal 1 and 7
An unbalanced translocation of chromosome 1 and 7 (t[1;7]) associated with neurological phenotype and brain malformation has rarely been reported. This clinical report describes 3 siblings with brain malformations and a 13.5 Mb duplication of 1q42.3q44, and a 7.6 Mb duplication of 7q36.1q36.3 detect...
Autores principales: | AlMajhad, Nabil A., AlHashem, Amal M., Bouhjar, Inesse A., Tabarki, Brahim M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Riyadh : Armed Forces Hospital
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726840/ https://www.ncbi.nlm.nih.gov/pubmed/28064333 http://dx.doi.org/10.17712/nsj.2017.1.20160436 |
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