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The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?

BACKGROUND: Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS: Own cases were molecul...

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Detalles Bibliográficos
Autores principales:	Eggermann, Thomas, Oehl‐Jaschkowitz, Barbara, Dicks, Severin, Thomas, Wolfgang, Kanber, Deniz, Albrecht, Beate, Begemann, Matthias, Kurth, Ingo, Beygo, Jasmin, Buiting, Karin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702562/ https://www.ncbi.nlm.nih.gov/pubmed/29178649 http://dx.doi.org/10.1002/mgg3.324

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