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.
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  Data: Genetic mosaicism – importance of clinical features to improve diagnosis.
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  Data: <searchLink fieldCode="AR" term="%22Daschkey%2C+Svenja%22">Daschkey, Svenja</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Svenja.daschkey@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Dietzel-Dahmen%2C+Jutta%22">Dietzel-Dahmen, Jutta</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Jutta.Dietzel-Dahmen@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Drechsler%2C+Matthias%22">Drechsler, Matthias</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Matthias-Harald.Drechsler@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Sivalingam%2C+Sugirthan%22">Sivalingam, Sugirthan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Sugirtahn.Sivalingam@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Schaper%2C+Jörg%22">Schaper, Jörg</searchLink><relatesTo>2</relatesTo> (AUTHOR)<i> Schaper@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Naujoks%2C+Monica%22">Naujoks, Monica</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> mail@kiz-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Welters%2C+Alena%22">Welters, Alena</searchLink><relatesTo>2,4</relatesTo> (AUTHOR)<i> Alena.Welters@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Redler%2C+Silke%22">Redler, Silke</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> Silke.Redler@med.uni-duesseldorf.de</i><br /><searchLink fieldCode="AR" term="%22Wieczorek%2C+Dagmar%22">Wieczorek, Dagmar</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> Dagmar.Wieczorek@med.uni-duesseldorf.de</i>
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PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=191807974
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        Value: 10.1007/s44162-026-00164-8
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        Text: English
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      – TitleFull: Genetic mosaicism – importance of clinical features to improve diagnosis.
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            – D: 23
              M: 02
              Text: 2/23/2026
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              Y: 2026
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