Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3063-3071

  Lesca, Gaetan ^a,b   Moizard, Marie Pierre ^c,d   Bussy, Gerald ^a   Boggio, Dominique ^a   Hu, Hao ^e   Haas, Stefan A ^e   Ropers, Hans Hilger ^e   Kalscheuer, Vera M ^e   Des Portes, Vincent ^a   Labalme, Audrey ^a   Sanlaville, Damien ^a,b   Edery, Patrick ^a,b   Raynaud, Martine ^c,d   Lespinasse, James ^f  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c CHRU de Tours   (France)

^d UNIVERSITY HOSPITAL OF TOURS   (France)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f Hopital de Chambery   (France)

Author keywords

17p13.3; Intellectual deficiency; MED12; X linked; YWHAE

Indexed keywords

ADULT; AGED; ARTICLE; BEHAVIOR DISORDER; CLINICAL ARTICLE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GAIT DISORDER; GENE; HAPLOTYPE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; LANGUAGE DISABILITY; MALE; MED12 GENE; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEIZURE; X CHROMOSOME INACTIVATION; X LINKED MENTAL RETARDATION; YWHAE GENE;

17P13.3; INTELLECTUAL DEFICIENCY; MED12; X-LINKED; YWHAE;

14-3-3 PROTEINS; ABNORMALITIES, MULTIPLE; ADULT; AGED; AGENESIS OF CORPUS CALLOSUM; ANUS, IMPERFORATE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOMES, HUMAN, X; CONSTIPATION; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HEART DEFECTS, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; MENTAL RETARDATION, X-LINKED; MIDDLE AGED; MUSCLE HYPOTONIA; MUTATION; X CHROMOSOME INACTIVATION;

EID: 84888074894     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36162     Document Type: Article

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