Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

European Journal of Human Genetics

Volumn 21, Issue 10, 2013, Pages 1100-1104

  Asadollahi, Reza ^a   Oneda, Beatrice ^a   Sheth, Frenny ^b   Azzarello Burri, Silvia ^a   Baldinger, Rosa ^a   Joset, Pascal ^a   Latal, Beatrice ^c   Knirsch, Walter ^c   Desai, Soaham ^d   Baumer, Alessandra ^a   Houge, Gunnar ^e   Andrieux, Joris ^f   Rauch, Anita ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b FRIGE Institute of Human Genetics   (India)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d Shree Krishna Hospital   (India)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

congenital heart defect; copy number changes; intellectual disability; MED13L; neurocristopathy

Indexed keywords

MEDIATOR COMPLEX; MEDIATOR COMPLEX SUBUNIT13 LIKE PROTEIN; MICROTUBULE ASSOCIATED PROTEIN 1; UNCLASSIFIED DRUG; UNTRANSLATED RNA;

ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME TRANSLOCATION; CONGENITAL HEART MALFORMATION; CONSANGUINITY; COORDINATION DISORDER; COPY NUMBER VARIATION; CYANOSIS; DEVELOPMENTAL DISORDER; EXOME; EXON; FACE ASYMMETRY; FACE MALFORMATION; FALLOT TETRALOGY; FEMALE; FETUS HYDROPS; FRAMESHIFT MUTATION; GAIT DISORDER; GENE; GENE DELETION; HAPLOINSUFFICIENCY; HEART VENTRICLE SEPTUM DEFECT; HIGH RESOLUTION MOLECULAR KARYOTYPING; HOMOZYGOTE; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; KARYOTYPING; LEARNING DISORDER; LOW SET EAR; LUNG VEIN DRAINAGE ANOMALY; MACROGLOSSIA; MEDIATOR COMPLEX SUBUNIT13 LIKE GENE; MICROGNATHIA; MISSENSE MUTATION; MOTOR COORDINATION; MUSCLE HYPOTONIA; NEURAL CREST; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOHYDRAMNIOS; PHENOTYPE; PHYSIOTHERAPY; PRIORITY JOURNAL; PULMONARY VALVE ATRESIA; PULMONARY VALVED CONDUIT; REOPERATION; SIBLING; SPEECH DEVELOPMENT; SPEECH THERAPY; SYSTOLIC HEART MURMUR; VOMITING;

ANIMALIA;

ABNORMALITIES, MULTIPLE; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DELETION; GENE DOSAGE; HAPLOINSUFFICIENCY; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; PHENOTYPE; SYNDROME;

EID: 84884587706     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.17     Document Type: Article

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