| 单词 |
lujan-fryns syndrome |
| 释义 |
Lujan-Fryns syndrome Lujan-Fryns syndrome An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
Molecular pathology
Caused by defects of MED12, which encodes a protein of the CDK8 subcomplex that modulates polymerase II (POL-II)-mediator complex interactions, thereby regulating transcription initiation and re-initiation rates. |
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