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Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family
BACKGROUND: Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the 6p25.3p23 region. An approximately 2.1 Mb terminal region ha...
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| Publicat a: | BMC Med Genomics |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4502905/ https://ncbi.nlm.nih.gov/pubmed/26174853 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-015-0113-1 |
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