A 785 kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 123-127

  Pariani, Mitchel J ^a   Spencer, Andrew ^a   Graham Jr , John M ^a   Rimoin, David L ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

3p13; 3p14; Blepharophimosis; del(3)(p14.1p13); EIF4E3; FOXP1; FOXP2; GPR27; PROK2; Speech delay

Indexed keywords

ADENOIDECTOMY; ARTICLE; BLEPHAROPHIMOSIS; BRAIN ATROPHY; BRAIN DEVELOPMENT; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME 3P; CHROMOSOME DELETION; CONTRACTURE; CRYPTORCHISM; DEVELOPMENT; DNA BINDING; EIF4E3 GENE; EPICANTHUS; ESOPHAGUS DEVELOPMENT; FEEDING DISORDER; FOREGUT DEVELOPMENT; FOXP1 GENE; FOXP2 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GRP27 GENE; HUMAN; HYPERMETROPIA; KARYOTYPE 46,XY; LANGUAGE; LANGUAGE DISABILITY; LUNG DEVELOPMENT; MALE; MUSCLE HYPERTONIA; MUSCLE SPASM; PRESCHOOL CHILD; PROK2 GENE; SCHWARTZ JAMPEL SYNDROME; SLEEP APNEA SYNDROME; SPEECH; SPEECH DISORDER; TONSILLECTOMY; CHROMOSOME 3; CHROMOSOME DISORDER; GENETICS; INFANT; MUTATION;

ANIMALIA; PASSERI;

FORKHEAD TRANSCRIPTION FACTOR; FOXP1 PROTEIN, HUMAN; REPRESSOR PROTEIN;

BLEPHAROPHIMOSIS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; CONTRACTURE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; INFANT; LANGUAGE DEVELOPMENT DISORDERS; MALE; MUSCLE HYPERTONIA; MUTATION; REPRESSOR PROTEINS;

EID: 67349164801     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.012     Document Type: Article

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