Chiari i malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency

European Journal of Human Genetics

Volumn 18, Issue 11, 2010, Pages 1216-1220

  Carr, Christopher W ^a   Moreno De Luca, Daniel ^b   Parker, Colette ^a   Zimmerman, Holly H ^a   Ledbetter, Nikki ^b   Martin, Christa Lese ^b   Dobyns, William B ^c   Abdul Rahman, Omar A ^a  

^a UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Chiari I malformation; deletion; developmental delay; FOXP; speech deficit

Indexed keywords

OXCARBAZEPINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXP1; TRANSCRIPTION FACTOR FOXP2; UNCLASSIFIED DRUG;

ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN DECOMPRESSION; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; DYSPRAXIA; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FACIAL EXPRESSION; FAMILY HISTORY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HAPLOIDY; HUMAN; LANGUAGE DEVELOPMENT; MALE; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SPEECH ARTICULATION; SPEECH DEVELOPMENT; SPEECH DISORDER;

ABNORMALITIES, MULTIPLE; ARNOLD-CHIARI MALFORMATION; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; EPILEPSY; FORKHEAD TRANSCRIPTION FACTORS; HAPLOINSUFFICIENCY; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; REPRESSOR PROTEINS;

EID: 77958510976     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.96     Document Type: Article

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