De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females

European Journal of Human Genetics

Volumn 23, Issue 5, 2015, Pages 602-609

  Popp, Bernt ^a   Støve, Svein I ^b,c   Endele, Sabine ^a   Myklebust, Line M ^b   Hoyer, Juliane ^a   Sticht, Heinrich ^a   Azzarello Burri, Silvia ^d   Rauch, Anita ^d   Arnesen, Thomas ^b,c   Reis, André ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF BERGEN   (Norway)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ECHOENCEPHALOGRAPHY; ELECTROCARDIOGRAPHY; ENZYME ACTIVE SITE; ENZYME DEFICIENCY; FACE DYSMORPHIA; FEEDING DIFFICULTY; FEMALE; FRAGILE X SYNDROME; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; IN VITRO STUDY; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; KARYOTYPING; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MISSENSE MUTATION; N ALPHA ACETYLTRANSFERASE 10 GENE; N TERMINAL ACETYLTRANSFERASE DEFICIENCY; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OGDEN SYNDROME; PHENOTYPE; PHYSICAL EXAMINATION; PIGEON THORAX; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; QT PROLONGATION; RECURRENT INFECTION; SCHOOL CHILD; SHORT STATURE; SKELETON MALFORMATION; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER; AMINO ACID SEQUENCE; CHEMISTRY; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXON; FACIES; GENE LOCUS; GENETIC ASSOCIATION STUDY; GENETICS; MOLECULAR GENETICS; MOLECULAR MODEL; PEDIGREE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

NAA10 PROTEIN, HUMAN; PEPTIDE ALPHA N ACETYLTRANSFERASE A; PEPTIDE ALPHA N ACETYLTRANSFERASE E;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; N-TERMINAL ACETYLTRANSFERASE A; N-TERMINAL ACETYLTRANSFERASE E; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE ALIGNMENT;

EID: 84928048614     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.150     Document Type: Article

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