Detection of regions of homozygosity in an unusual case of frontonasal dysplasia
Abstract We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations,...
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| Principais autores: | , , , , , , |
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| 格式: | Artigo |
| 语言: | Inglês |
| 出版: |
BMC
2024-10-01
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| 丛编: | Molecular Cytogenetics |
| 主题: | |
| 在线阅读: | https://doi.org/10.1186/s13039-024-00693-1 |
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