Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

Genetics in Medicine

Volumn 19, Issue 1, 2017, Pages 13-19

  Sajan, Samin A ^a,b,f   Jhangiani, Shalini N ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Lupski, James R ^a,b   Glaze, Daniel G ^a   Kaufmann, Walter E ^c   Skinner, Steven A ^d   Annese, Fran ^d   Friez, Michael J ^d   Lane, Jane ^e   Percy, Alan K ^e   Neul, Jeffrey L ^a,b,f  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d GREENWOOD GENETIC CENTER   (United States)

^e University of Alabama at Birmingham   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

chromatin regulation; CNV; exome sequencing; glutamate signaling; Rett syndrome

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA2; ACTL6B PROTEIN; BRD1 PROTEIN; CDKL5 PROTEIN; CHD4 PROTEIN; FOXG1 PROTEIN; GENOMIC DNA; GLUTAMATE RECEPTOR; HISTONE DEACETYLASE 1; METHYL CPG BINDING PROTEIN 2; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2B; PROTEIN; SHANK3 PROTEIN; SWI/SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY B MEMBER 1; TRRAP PROTEIN; UNCLASSIFIED DRUG; CDKL5 PROTEIN, HUMAN; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; MECP2 PROTEIN, HUMAN; NERVE PROTEIN; PROTEIN SERINE THREONINE KINASE;

ARTICLE; CELL MEMBRANE; CHROMATIN; CHROMATIN STRUCTURE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COPY NUMBER VARIATION; DIAGNOSTIC VALUE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MENTAL DISEASE; RETT SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; ADOLESCENT; ADULT; CHILD; FEMALE; GENETICS; INFANT; MALE; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMATIN; DNA COPY NUMBER VARIATIONS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INFANT; MALE; METHYL-CPG-BINDING PROTEIN 2; MUTATION; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; WHOLE EXOME SEQUENCING;

EID: 85009165750     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.42     Document Type: Article

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