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A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report
Partial trisomy 9 is a common autosomal trisomy, which is characterized by non-specific psychomotor delay, mental retardation and moderately abnormal characteristic facial features. Generally, partial trisomy 9 leads to variable phenotypes depending on the size and position of the duplicated region....
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
D.A. Spandidos
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438924/ https://www.ncbi.nlm.nih.gov/pubmed/25760145 http://dx.doi.org/10.3892/mmr.2015.3436 |