Kleefstra Syndrome: The First Case Report From Iran
Kleefstra Syndrome is characterized by severe mental retardation, brachycephaly, microcephaly, epileptic seizures, distinct facial features, and infantile weak muscle tone and heart defects. Deletion of EHMT1 is the main player in 75% of cases. Because of blurriness in genotype-phenotype correlatio...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2017-12-01
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| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | https://acta.tums.ac.ir/index.php/acta/article/view/5676 |