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Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

The introduction of array CGH in clinical diagnostics has led to the discovery of many new microdeletion/microduplication syndromes. Most of them are rare and often present with a variable range of clinical anomalies. In this study we report three patients with a de novo overlapping microdeletion of...

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Detalhes bibliográficos
Main Authors: Vergult, Sarah, Krgovic, Danijela, Loeys, Bart, Lyonnet, Stanislas, Liedén, Agne, Anderlid, Britt-Marie, Sharkey, Freddie, Joss, Shelagh, Mortier, Geert, Menten, Björn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3190250/
https://ncbi.nlm.nih.gov/pubmed/21505450
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.67
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