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P44.13: Prenatal diagnosis of mucolipidosis II using genetic testing

✍ Scribed by J. Hartung; K. Pötschick; J. Kunz; K. Kalache; T. Braulke

Book ID
112226745
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
37 KB
Volume
30
Category
Article
ISSN
0960-7692

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Prenatal diagnosis of mucolipidosis type II (I-cell disease) can be performed quickly and reliably by electron microscopy of chorionic villus tissue. This study reports the results of studies in three prenatal assessments (two families) where the pregnancy was at one in four risk of the disorder. In