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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...

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Bibliografske podrobnosti
izdano v:Children (Basel)
Main Authors: Han, Ji Yoon, Lee, Hyun Joo, Lee, Young-Mock, Park, Joonhong
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
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
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