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Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
The 15q duplication syndrome (dup15q) is due to the presence of at least one additional derived copy of the Prader–Willi syndrome/Angelman syndrome (PWS/AS) critical region that is approximately 5 Mb long within chromosome 15q11.2-q13.1. This report describes distinct roles of the origin of intersti...
Shranjeno v:
| izdano v: | Children (Basel) |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
MDPI
2021
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8074356/ https://ncbi.nlm.nih.gov/pubmed/33924158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/children8040313 |
| Oznake: |
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