טוען...
Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardation caused by chromosome microduplication/microdeletion. There were 10 affected individuals w...
שמור ב:
| הוצא לאור ב: | Mol Cytogenet |
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| Main Authors: | , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2021
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8268195/ https://ncbi.nlm.nih.gov/pubmed/34238319 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00552-3 |
| תגים: |
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