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Journal: BiomedicinesVolume: 11Number: 12
Article: A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)
- Authors:
- Jorge Diogo Da Silva1,2,3,†,
- Natália Oliva-Teles1,4,5,6,† and
- Nataliya Tkachenko1,4
- et al.
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