Expanding the phenotype of IQSEC2 mutations: Truncating mutations in severe intellectual disability

European Journal of Human Genetics

Volumn 22, Issue 2, 2014, Pages 289-292

  Tran Mau Them, Frederic ^a   Willems, Marjolaine ^a   Albrecht, Beate ^b   Sanchez, Elodie ^a   Puechberty, Jacques ^a   Endele, Sabine ^c   Schneider, Anouck ^a   Pallares, Nathalie Ruiz ^a   Missirian, Chantal ^d   Rivier, Francois ^e   Girard, Manon ^a   Holder, Muriel ^f   Manouvrier, Sylvie ^f   Touitou, Isabelle ^a   Lefort, Genevieve ^a   Sarda, Pierre ^a   Moncla, Anne ^e   Drunat, Severine ^g   Wieczorek, Dagmar ^b   Genevieve, David ^a  

^a HÔPITAL ARNAUD DE VILLENEUVE   (France)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Unité de Géné Tique Clinique   (France)

^e HÔPITAL SAINT ELOI   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g Pole Biologie et Pharmacie   (France)

Author keywords

IQSEC2 truncating mutations; microcephaly; syndromic X linked intellectual disability

Indexed keywords

ANGER; ARTICLE; AUTISM; AUTOMUTILATION; BRACHYCEPHALY; BRAIN ATROPHY; BREECH PRESENTATION; CASE REPORT; CESAREAN SECTION; EXOME; EXON; EYE EXAMINATION; FOCAL EPILEPSY; FRANCE; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GERMANY; GESTATIONAL AGE; HAND MOVEMENT; HUMAN; HYPERKINESIA; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; IQSEC2 GENE; LANGUAGE DISABILITY; MALE; MICROCEPHALY; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONLY CHILD; PATHOLOGICAL CRYING; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SEIZURE; STRABISMUS; TRUNCATING MUTATION; ABNORMALITIES, MULTIPLE; ADULT; CLASSIFICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; INTELLECTUAL DISABILITY; PRESCHOOL CHILD; STOP CODON;

GUANINE NUCLEOTIDE EXCHANGE FACTOR; IQSEC2 PROTEIN, HUMAN; STOP CODON;

ABNORMALITIES, MULTIPLE; ADULT; CHILD, PRESCHOOL; CODON, NONSENSE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INTELLECTUAL DISABILITY; MALE; PHENOTYPE;

EID: 84892797577     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.113     Document Type: Article

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