Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

European Journal of Human Genetics

Volumn 18, Issue 4, 2010, Pages 436-441

  Williams, Stephen R ^a   Mullegama, Sureni V ^a   Rosenfeld, Jill A ^b   Dagli, Aditi I ^c   Hatchwell, Eli ^d   Allen, William P ^e   Williams, Charles A ^c   Elsea, Sarah H ^a  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PerkinElmer   (United States)

^c UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^d STONY BROOK UNIVERSITY   (United States)

^e Mission Hospital   (United States)

Author keywords

2q23.1; Developmental delay; MBD5; Microcephaly; Microdeletion; Seizures

Indexed keywords

BINDING PROTEIN; PROTEIN MBD5; UNCLASSIFIED DRUG;

ARTICLE; BEHAVIOR DISORDER; CHILD; CHROMOSOME 2Q; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; FEMALE; GENE DELETION; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; MALFORMATION SYNDROME; MICROCEPHALY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEIZURE; SHORT STATURE; SPEECH DISORDER;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; HAPLOTYPES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; MICROCEPHALY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEIZURES; SPEECH DISORDERS; SYNDROME; YOUNG ADULT;

EID: 77949652528     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.199     Document Type: Article

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