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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Main Authors: Ji Yoon Han (Author), Hyun Joo Lee (Author), Young-Mock Lee (Author), Joonhong Park (Author)
Format: Book
Published: MDPI AG, 2021-04-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available