Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

doi:10.1002/humu.22517

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Article

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

Human mutation - 1 Apr 2014

Lehalle Daphné, Gordon Christopher T, Oufadem Myriam, Goudefroye Géraldine, Boutaud Lucile, Alessandri Jean-Luc, Baena Neus, Baujat Geneviève, Baumann Clarisse, Boute-Benejean Odile, Caumes Roseline, Decaestecker Charles, Gaillard Dominique, Goldenberg Alice, Gonzales Marie, Holder-Espinasse Muriel, Jacquemont Marie-Line, Lacombe Didier, Manouvrier-Hanu Sylvie, Marlin Sandrine, Mathieu-Dramard Michèle, Morin Gilles, Pasquier Laurent, Petit Florence, Rio Marlène, Smigiel Robert, Thauvin-Robinet Christel, Vasiljevic Alexandre, Verloes Alain, Malan Valérie, Munnich Arnold, de Pontual Loïc, Vekemans Michel, Lyonnet Stanislas, Attié-Bitach Tania, Amiel Jeanne

Abstract excerpt

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...

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PMID: 24470203
DOI: 10.1002/humu.22517

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EFTUD2

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Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.PMID 24470203Read ↗

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