OTX2 Dosage Sensitivity is Implicated in Hemifacial Microsomia
Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D. Hoffman, Dror Aizenbud, Yaniv Erlich
The paper identifies a 1.3Mb duplication on chromosome 14q22.3 in HFM patients, implicating OTX2 dosage sensitivity in craniofacial development and linking it to medulloblastoma.
bioRxiv · Dec 3, 2013Genetics