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Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Genet Test Mol Biomarkers. 2012 Oct;16(10):1188-94. doi: 10.1089/gtmb.2012.0153. Epub 2012 Aug 27.
Genet Test Mol Biomarkers. 2012.
PMID: 22924495
A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA.
Vuorela PE, et al. Among authors: penttinen mt.
Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704.
Clin Dysmorphol. 2008.
PMID: 18978652
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