Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing
Abstract To explore the genetic cause of a four-generation severe intellectual disability in a Chinese family using nanopore sequencing and to provide genetic counseling and reproductive guidance for family members. Multiple genetic analyses of the proband and family members were performed, includin...
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| Principais autores: | , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Nature Portfolio
2025-01-01
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| סדרה: | Scientific Reports |
| נושאים: | |
| גישה מקוונת: | https://doi.org/10.1038/s41598-025-87083-8 |
| תגים: |
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