Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders

Chromosomal mosaicism, which represents a diagnostic challenge for detection and interpretation, has been described in several genetic conditions. It can contribute to a large phenotypic variation in diseases. At analysis of a well-characterized cohort of 714 patients with neurodevelopmental disorde...

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Bibliographic Details
Published in:Mol Syndromol
Main Authors: Oneda, Beatrice, Asadollahi, Reza, Azzarello-Burri, Silvia, Niedrist, Dunja, Baldinger, Rosa, Masood, Rahim, Schinzel, Albert, Latal, Bea, Jenni, Oskar G., Rauch, Anita
Format: Artigo
Language:Inglês
Published: S. Karger AG 2017
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5582502/
https://ncbi.nlm.nih.gov/pubmed/28878611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477189
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