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A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weis..:
Jorge Diogo Da Silva
;
Natália Oliva-Teles
;
Nataliya Tkachenko
...
Molecular Genetics and Genetic Diseases. , 2022
Link:
https://doi.org/10.3390/biomedicines11010012
RT Journal T1
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)
UL https://suche.suub.uni-bremen.de/peid=base-ftmdpi:oai:mdpi.com:_2227-9059_11_1_12_&Exemplar=1&LAN=DE A1 Jorge Diogo Da Silva A1 Natália Oliva-Teles A1 Nataliya Tkachenko A1 Joana Fino A1 Mariana Marques A1 Ana Maria Fortuna A1 Dezso David PB Multidisciplinary Digital Publishing Institute YR 2022 K1 Sifrim–Hitz–Weiss syndrome K1 CHD4 -associated ND phenotype K1 frameshift CHD4 variant K1 familial translocation K1 GSG1L2 K1 dup(2)(q14.3q21.1) JF Molecular Genetics and Genetic Diseases LK http://dx.doi.org/https://doi.org/10.3390/biomedicines11010012 DO https://doi.org/10.3390/biomedicines11010012 SF ELIB - SuUB Bremen
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