Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

American Journal of Human Genetics

Volumn 90, Issue 2, 2012, Pages 369-377

  Lines, Matthew A ^a   Huang, Lijia ^a   Schwartzentruber, Jeremy ^b   Douglas, Stuart L ^a   Lynch, Danielle C ^a   Beaulieu, Chandree ^a   Guion Almeida, Maria Leine ^c   Zechi Ceide, Roseli Maria ^c   Gener, Blanca ^d   Gillessen Kaesbach, Gabriele ^e   Nava, Caroline ^f   Baujat, Genevive ^f   Horn, Denise ^g   Kini, Usha ^h   Caliebe, Almuth ⁱ   Alanay, Yasemin ^j,k   Utine, Gulen Eda ^j   Lev, Dorit ^l   Kohlhase, Jürgen ^m   Grix, Arthur W ⁿ   Lohmann, Dietmar R ^o   Hehr, Ute ^p   Böhm, Detlef ^m   Majewski, Jacek ^b   Bulman, Dennis E ^q   Wieczorek, Dagmar ^o   Boycott, Kym M ^a   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d HOSPITAL DE CRUCES   (Spain)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

ⁱ UNIVERSITY OF KIEL   (Germany)

^j HACETTEPE UNIVERSITY   (Turkey)

^k ACIBADEM UNIVERSITY   (Turkey)

^l WOLFSON MEDICAL CENTER   (Israel)

^m Center for Human Genetics Freiburg   (Germany)

ⁿ KAISER PERMANENTE   (United States)

^o UNIVERSITY HOSPITAL ESSEN   (Germany)

^p UNIVERSITY OF REGENSBURG   (Germany)

^q OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATASE;

ADULT; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; EFTUD2 GENE; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPLICEOSOME;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXOME; FEMALE; GTP PHOSPHOHYDROLASES; HAPLOINSUFFICIENCY; HUMANS; INFANT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, TERTIARY; RIBONUCLEOPROTEIN, U5 SMALL NUCLEAR; RNA SPLICING; SPLICEOSOMES;

EID: 84857055806     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.023     Document Type: Article

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