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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
We present a 19 year old male with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3M syndrome. We discuss the utility of exome sequencing in diagnosing rare disord...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2012
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3524393/ https://ncbi.nlm.nih.gov/pubmed/22974575 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jpeds.2012.07.055 |
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