Search Results - "Penttinen, Maila T"

Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example by Pohjola, Pia, Peippo, Maarit, Penttinen, Maila T, Elenius, Klaus, Kääriäinen, Helena

“…It is often the case that the genetic background of a rare disease has been solved, but the testing of a clinical patient can be performed only through…”
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A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features by Vuorela, Pia E., Penttinen, Maila T., Hietala, Marja H., Laine, Jukka O., Huoponen, Kirsi A., Kääriäinen, Helena A.

“…The autosomal dominant CHARGE syndrome (MIM ♯214800) is caused by mutations in the CHD7 gene. It is usually sporadic but a few cases with gonadal mosaicism and…”
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