Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders
Imprinting disorders are associated with mutations and epimutations affecting imprinted genes, that is those whose expression is restricted by parent of origin. Their diagnosis is challenging for two reasons: firstly, their clinical features, particularly prenatal and postnatal growth disturbance, a...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
2013-08-02.
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| Subjects: | |
| Online Access: | Get fulltext |