| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5904980 | European Journal of Medical Genetics | 2012 | 5 Pages |
Abstract
⺠Two cases with severe neonatal manifestation of Costello syndrome. ⺠The two individuals carry the HRAS mutations p.G12C and p.G12D. ⺠Both had hypertrophic cardiomyopathy, tachyarrhythmia, edema, and respiratory distress. ⺠Our data provide evidence for a genotype-phenotype correlation in Costello syndrome.
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Authors
Sybille Lorenz, Christine Petersen, Ulrike KordaÃ, Heide Seidel, Martin Zenker, Kerstin Kutsche,