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Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings
BACKGROUND: Deletion and duplication of the 3.7 Mb region in 17p11.2 result in two syndromes, Smith-Magenis syndrome and Potocki-Lupski syndrome, which are well-known development disorders. The purpose of this study was to determine the prevalence, genetic characteristics and clinical phenotypes of...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411507/ https://www.ncbi.nlm.nih.gov/pubmed/34470638 http://dx.doi.org/10.1186/s12920-021-01065-z |