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12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region
To date, there have been only a few reports of patients carrying a microdeletion in chromosome 12q14. These patients usually present with pre- and postnatal growth retardation, and developmental delay. Here we report on two additional patients with both genotype and phenotype differences. Similar to...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4525753/ https://www.ncbi.nlm.nih.gov/pubmed/26266063 http://dx.doi.org/10.1155/2015/192071 |