A partial MECP2 duplication in a mildly affected adult male: A putative role for the 3' untranslated region in the MECP2 duplication phenotype

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Hanchard, Neil A ^a   Carvalho, Claudia M B ^a   Bader, Patricia ^b   Thome, Aaron ^a   Omo Griffith, Lisa ^b   del Gaudio, Daniela ^a   Pehlivan, Davut ^a   Fang, Ping ^a   Schaaf, Christian P ^a   Ramocki, Melissa B ^a,c   Lupski, James R ^a,c   Cheung, Sau Wai ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Northeast Indiana Genetic Counseling Center   (United States)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

3 UTR; CNV; Epilepsy; Rearrangement; X linked intellectual disability

Indexed keywords

METHYL CPG BINDING PROTEIN 2; OLIGONUCLEOTIDE;

3' UNTRANSLATED REGION; ADULT; AGGRESSION; ARTICLE; ATTENTION DEFICIT DISORDER; BLOOD SAMPLING; CASE REPORT; CELL LYSATE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; EPILEPSY; FLUORESCENCE IN SITU HYBRIDIZATION; FUNCTIONAL DISEASE; GENE DOSAGE; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; LYMPHOBLAST; MALE; MICROARRAY ANALYSIS; MILD COGNITIVE IMPAIRMENT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

3' UNTRANSLATED REGIONS; ADULT; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; EPILEPSY; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; METHYL-CPG-BINDING PROTEIN 2; PEDIGREE; PHENOTYPE;

EID: 84864824367     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-71     Document Type: Article

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