Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Katarzyna Polonis, Patrick R. Blackburn, Raul A. Urrutia, Gwen A. Lomberk, Teresa Kruisselbrink, Margot A. Cousin, Nicole J. Boczek, Nicole L. Hoppman, Dusica Babovic-Vuksanovic, Eric W. Klee, Pavel N. Pichurin
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