Familial 22q11.2 deletion syndrome with autosomal dominant inheritance
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent (autosomal dominant mutation). Genotype-phenotype...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cukurova University
2016-06-01
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| Series: | Cukurova Medical Journal |
| Subjects: | |
| Online Access: | https://dergipark.org.tr/tr/download/article-file/206123 |