Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial delet...
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| Auteurs principaux: | , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2021
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| Sujets: | |
| Accès en ligne: | https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b |
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