De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

Clinical Genetics

Volumn 87, Issue 4, 2015, Pages 356-361

  Nakajima, J ^a,b   Okamoto, N ^c   Tohyama, J ^d   Kato, M ^e   Arai, H ^f   Funahashi, O ^a   Tsurusaki, Y ^a   Nakashima, M ^a   Kawashima, H ^b   Saitsu, H ^a   Matsumoto, N ^a   Miyake, N ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b TOKYO MEDICAL UNIVERSITY   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^e YAMAGATA UNIVERSITY   (Japan)

^f OSAKA UNIVERSITY   (Japan)

Author keywords

Autistic disorder; EEF1A2; Epilepsy; Facial dysmorphism; Intellectual disability; Speech delay; Whole exome sequencing

Indexed keywords

VALPROIC ACID; ZONISAMIDE; EEF1A2 PROTEIN, HUMAN; ELONGATION FACTOR 1;

ARTICLE; AUTISM; BRUXISM; CASE REPORT; CHEEK; CHILD; CLINICAL FEATURE; COMPULSION; EEF1A2 GENE; ELECTROENCEPHALOGRAM; EPICANTHUS; EPILEPSY; EXOME; FACE DISORDER; FACIES; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; HABIT; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LOW SET EAR; LOWER LIP; MICROCEPHALY; MOUTH; MUSCLE HYPOTONIA; MUSCLE SPASM; NOSE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE; PALPEBRAL FISSURE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SLEEP DISORDER; SPEECH DISORDER; TRICHOTILLOMANIA; UPPER LIP; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DNA SEQUENCE; FACE; GENETICS; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME;

EUKARYOTA; MUS;

AUTISTIC DISORDER; BASE SEQUENCE; DNA COPY NUMBER VARIATIONS; EPILEPSY; FACE; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PEPTIDE ELONGATION FACTOR 1; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 84925233693     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12394     Document Type: Article

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