Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients. Issue 4 (5th March 2014) - Lehalle, Daphné
Abstract We have delineated the clinical spectrum of Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) in a series of 36 patients with mutations in EFTUD2, which encodes a component of the spliceosome. Despite high phenotypic variability amongst MFDGA patients, a characteristic facial gestalt provides the most useful diagnostic handle.