"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: Expanding the phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 108-113

  Luquetti, Daniela V ^a   Hing, Anne V ^a   Rieder, Mark J ^b   Nickerson, Deborah A ^b   Turner, Emily H ^b   Smith, Joshua ^b   Park, Sarah ^a   Cunningham, Michael L ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Choanal atresia; Craniofacial development; Craniofacial microsomia; EFTUD2; Epibulbar dermoid; Mandibulofacial dysostosis; Oculo auriculo vertebral spectrum (OAVS)

Indexed keywords

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

ARTICLE; CASE REPORT; CHD7 GENE; CHOANA ATRESIA; CLEFT PALATE; CLINICAL FEATURE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; EFTUD2 GENE; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; JAW MALFORMATION; MALE; MANDIBULOFACIAL DYSOSTOSIS; MAXILLA HYPOPLASIA; MICROCEPHALY; MICROTIA; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE; TERATOMA;

CHARGE SYNDROME; CHILD, PRESCHOOL; COHORT STUDIES; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXOME; GENOMICS; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; INFANT; MALE; MANDIBULOFACIAL DYSOSTOSIS; MICROCEPHALY; MUTATION; PEPTIDE ELONGATION FACTOR TU; PHENOTYPE;

EID: 84871680664     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35696     Document Type: Article

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