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Molecularly proven mosaicism in phenotypically normal...

Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation

Hague, Jennifer, Delon, Isabelle, Brugger, Kim, Martin, Howard, Abbs, Stephen, Park, Soo-Mi
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Volume:
170
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37631
Date:
June, 2016
File:
PDF, 4.32 MB
english, 2016
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