Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutations

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Voigt, Claudia ^a   Mégarbané, André ^b   Neveling, Kornelia ^c   Czeschik, Johanna Christina ^a   Albrecht, Beate ^a   Callewaert, Bert ^d   Von Deimling, Florian ^e   Hehr, Andreas ^f   Falkenberg Smeland, Marie ^g   König, Rainer ^h   Kuechler, Alma ^a   Marcelis, Carlo ^c   Puiu, Maria ⁱ   Reardon, Willie ^j   Riise Stensland, Hilde Monica Frostad ^g   Schweiger, Bernd ^a   Steehouwer, Marloes ^c   Teller, Christopher ^k   Martin, Marcel ^l   Rahmann, Sven ^l,m   Hehr, Ute ^f   Brunner, Han G ^c   Lüdecke, Hermann Josef ^a   Wieczorek, Dagmar ^a   more..

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e Sozialpädiatrisches Zentrum Coburg   (Germany)

^f UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^g UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^h UNIVERSITY HOSPITAL FRANKFURT   (Germany)

ⁱ VICTOR BABES UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

^j OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^k UNIVERSITY HOSPITAL ULM   (Germany)

^l TU DORTMUND UNIVERSITY   (Germany)

^m UNIVERSITY OF DUISBURG ESSEN   (Germany)

more..

Author keywords

Acrofacial dysostosis type Guion Almeida (AFDGA); EFTUD2; Esophageal atresia (EA); Mandibulofacial dysostosis type Guion Almeida (MFDGA); Oto facial syndrome with midline malformation

Indexed keywords

ELONGATION FACTOR; ELONGATION FACTOR TU GTP BINDING DOMAIN 2; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; ESOPHAGUS ATRESIA; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MANDIBULOFACIAL DYSOSTOSIS TYPE GUION ALMEIDA; MENTAL DEFICIENCY; MICROCEPHALY; NUCLEOTIDE SEQUENCE;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; ESOPHAGEAL ATRESIA; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTELLECTUAL DISABILITY; MALE; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; PEPTIDE ELONGATION FACTORS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84880339723     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-110     Document Type: Article

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