Article
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Human mutation - 1 Nov 2014
Utami Kagistia Hana, Winata Cecilia Lanny, Hillmer Axel M, Aksoy Irene, Long Hoang Truong, Liany Herty, Chew Elaine G Y, Mathavan Sinnakaruppan, Tay Stacey K H, Korzh Vladimir, Sarda Pierre, Davila Sonia, Cacheux Valere
Abstract excerpt
MED13L is a component subunit of the Mediator complex, an important regulator of transcription that is highly conserved across eukaryotes. Here, we report MED13L disruption in a translocation t(12;19) breakpoint of a patient with Pierre-Robin syndrome, moderate intellectual disability, craniofacial anomalies, and muscular defects. The phenotype is similar to previously described patients with MED13L...
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