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De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype
Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan SLanguage:
english
Journal:
Genetics in Medicine
DOI:
10.1038/s41436-018-0014-8
Date:
June, 2018
File:
PDF, 506 KB
english, 2018