Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region
We present a Caucasian female, who was diagnosed at 13 years of age with Temple syndrome (formerly referred to as "maternal UPD 14 phenotype") due to an epigenetic loss of methylation at IG-DMR/MEG3-DMR at the chromosome 14q32 imprinted locus. Clinical features were typical and included in...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
2016-01.
|
| Subjects: | |
| Online Access: | Get fulltext |