Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
Abstract
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable...
Paper Details
Title
Delineation ofEFTUD2Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients
Published Date
Mar 5, 2014
Journal
Volume
35
Issue
4
Pages
478 - 485
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