Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients. Issue 4 (5th March 2014)

• Record Type: Journal Article
• Authors: 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, Loïc; Vekemans, Michel; Lyonnet, Stanislas; Attié‐Bitach, Tania; Amiel, Jeanne;
• Is Part Of: Human mutation. Volume 35:Issue 4(2014:Apr.)
• Page Start: 478
• Page End: 485
• Publication Date: 2014-03-05
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22517
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22517-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We have delineated the clinical spectrum of Mandibulofacial dysostosis, Guion‐Almeida type (MFDGA) in a series of 36 patients with mutations in <italic>EFTUD2</italic>, which encodes a component of the spliceosome. Despite high phenotypic variability amongst MFDGA patients, a characteristic facial gestalt provides the most useful diagnostic handle. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg4sxjtk3g" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>