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Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Clinical molecular testing has been available for 22q11.2 deletion syndrome (22q11.2DS) for over two decades yet under-recognition and diagnostic delays are common. To characterize the “diagnostic odyssey” in 22q11.2DS we studied 202 well-characterized unrelated adults, none ascertained through an a...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5873609/ https://ncbi.nlm.nih.gov/pubmed/29575622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38645 |
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