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)

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Bibliographic Details
Published inBiomedicines Vol. 11; no. 1
Main Authors Da Silva, Jorge Diogo, Oliva-Teles, Natália, Tkachenko, Nataliya, Fino, Joana, Marques, Mariana, tuna, Ana Maria, David, Dezso
Format Report
LanguageEnglish
Published 21.12.2022
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Bibliography:ObjectType-Case Study-2
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SourceType-Reports-1
ObjectType-Report-1
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines11010012