Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

Human Mutation

Volumn 35, Issue 4, 2014, Pages 478-485

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

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b IMAGINE INSTITUTE   (France)

^c Centre Hospitalier Departemental Felix Guyon   (France)

^d Hospital Universitari Parc Taulí   (Spain)

^e HÔPITAL ROBERT DEBRÉ   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g HÔPITAL MAISON BLANCHE   (France)

^h HÔPITAL CHARLES NICOLLE   (France)

ⁱ Section of Radiology   (France)

^j UNIVERSITÉ DE BORDEAUX   (France)

^k AMIENS UNIVERSITY HOSPITAL   (France)

^l RENNES UNIVERSITY HOSPITAL   (France)

^m Katedra i Zaklad Genetyki   (Poland)

ⁿ DIJON UNIVERSITY HOSPITAL   (France)

^o Département de Pathologie et Neuropathologie Groupement Hospitalier Est   (France)

more..

Author keywords

EFTUD2; Mandibulofacial dysostosis; Microcephaly; Spliceosome

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CHILD; CHROMOSOME 17Q; CLINICAL ARTICLE; EFTUD2 GENE; EXTERNAL EAR MALFORMATION; FEMALE; GENE; GENE MUTATION; GOLDENHAR SYNDROME; HAPLOINSUFFICIENCY; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; SPLICEOSOME; SYNDROME CHARGE; SYNDROME DELINEATION; ANUS ATRESIA; BILATERAL HEARING LOSS; DIFFERENTIAL DIAGNOSIS; EXTERNAL EAR; GENETICS; HAND MALFORMATION; INFANT; INTELLECTUAL IMPAIRMENT; METABOLISM; MULTIPLE MALFORMATION SYNDROME; MUTATION; OPHTHALMOPLEGIA; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; THROMBOCYTOPENIA;

EFTUD2 PROTEIN, HUMAN; ELONGATION FACTOR; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ABNORMALITIES, MULTIPLE; ANUS, IMPERFORATE; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; EAR, EXTERNAL; FEMALE; HAND DEFORMITIES, CONGENITAL; HAPLOINSUFFICIENCY; HEARING LOSS, BILATERAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MUTATION; OPHTHALMOPLEGIA; PEPTIDE ELONGATION FACTORS; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; RIBONUCLEOPROTEIN, U5 SMALL NUCLEAR; THROMBOCYTOPENIA;

EID: 84896132991     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22517     Document Type: Article

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