Genetic mosaicism – importance of clinical features to improve diagnosis.

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Title: Genetic mosaicism – importance of clinical features to improve diagnosis.
Authors: Daschkey, Svenja1 (AUTHOR) Svenja.daschkey@med.uni-duesseldorf.de, Dietzel-Dahmen, Jutta1 (AUTHOR) Jutta.Dietzel-Dahmen@med.uni-duesseldorf.de, Drechsler, Matthias1 (AUTHOR) Matthias-Harald.Drechsler@med.uni-duesseldorf.de, Sivalingam, Sugirthan1 (AUTHOR) Sugirtahn.Sivalingam@med.uni-duesseldorf.de, Schaper, Jörg2 (AUTHOR) Schaper@med.uni-duesseldorf.de, Naujoks, Monica3 (AUTHOR) mail@kiz-duesseldorf.de, Welters, Alena2,4 (AUTHOR) Alena.Welters@med.uni-duesseldorf.de, Redler, Silke1 (AUTHOR) Silke.Redler@med.uni-duesseldorf.de, Wieczorek, Dagmar1,2 (AUTHOR) Dagmar.Wieczorek@med.uni-duesseldorf.de
Source: Journal of Rare Diseases. 2/23/2026, Vol. 5 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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Description
ISSN:2731085X
DOI:10.1007/s44162-026-00164-8