PMM2‐CDG caused by uniparental disomy: Case...

PMM2‐CDG caused by uniparental disomy: Case report and literature review

Vaes, Laurien, Tiller, George E., Pérez, Belén, Boyer, Suzanne W., Berry, Susan A., Sarafoglou, Kyriakie, Morava, Eva
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Journal:
JIMD Reports
DOI:
10.1002/jmd2.12122
Date:
April, 2020
File:
PDF, 741 KB
2020
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