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A mild phenotype associated with a de novo microdeletion 10q23.1-q23.2: a new patient with a novel feature
Chromosome 10q23 contains several genes, including PTEN and BMPR1A, the mutations or microdeletion of which are associated with aggressive polyposis and malignancies in children. Deletions in this chromosomal region have also been associated with heart anomalies, developmental delay and macrocephaly...
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| Publicado en: | BMJ Case Rep |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BMJ Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4840634/ https://ncbi.nlm.nih.gov/pubmed/27090543 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-214388 |
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