MED23-associated intellectual disability in a non-consanguineous family

American Journal of Medical Genetics, Part A

Volumn 167, Issue 6, 2015, Pages 1374-1380

  Trehan, Aditi ^a   Brady, Jacqueline M ^a   Maduro, Valerie ^a   Bone, William P ^a   Huang, Yan ^a   Golas, Gretchen A ^a   Kane, Megan S ^a   Lee, Paul R ^b   Thurm, Audrey ^c   Gropman, Andrea L ^a,d   Paul, Scott M ^e   Vezina, Gilbert ^d   Markello, Thomas C ^a   Gahl, William A ^a   Boerkoel, Cornelius F ^a   Tifft, Cynthia J ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^d GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^e NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Intellectual disability (ID); MED23; Mediator complex; Whole exome sequencing (WES)

Indexed keywords

GENOMIC DNA; MESSENGER RNA; RNA POLYMERASE II; MED23 PROTEIN, HUMAN; MEDIATOR COMPLEX; PROTEIN C FOS; PROTEIN C JUN;

AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; BRAIN MALFORMATION; CASE REPORT; CFCTL GENE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DELAY; DEVELOPMENTAL DISORDER; DISEASE PREDISPOSITION; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EXOME; FAMILY; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE OVERLOAD; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MALE; MED23 GENE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROIMAGING; NON CONSANGUINEOUS FAMILY; PATENT FORAMEN OVALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; STATIC ENCEPHALOPATHY; STOP CODON; TONIC CLONIC SEIZURE; WESTERN BLOTTING; ABNORMALITIES, MULTIPLE; GENETICS; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; METABOLISM; PATHOLOGY; SIBLING;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; EXOME; GENE EXPRESSION; HEART DEFECTS, CONGENITAL; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; MALE; MEDIATOR COMPLEX; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS C-FOS; PROTO-ONCOGENE PROTEINS C-JUN; SIBLINGS;

EID: 84929946282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37047     Document Type: Article

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