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Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype
BACKGROUND: Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called “unbalanced chromosome abnormalities” (UBCAs), which are either gains or losses or equally large genomic regions, but the affected person is not or only m...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8943926/ https://www.ncbi.nlm.nih.gov/pubmed/35331298 http://dx.doi.org/10.1186/s13039-022-00590-5 |