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Clin Genet. 2013 Oct;84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20.

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

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  • 1Department of Neurosurgery; Department of Neurobiology; Department of Genetics, Center for Human Genetics and Genomics and Program on Neurogenetics, Yale School of Medicine, New Haven, CT, USA; Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.
PMID:
23320496
[PubMed - indexed for MEDLINE]
PMCID:
PMC4191904
Free PMC Article
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