FOXP1 mutations cause intellectual disability and a recognizable phenotype

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3166-3175

  Le Fevre, Anna K ^a,b   Taylor, Sharelle ^c   Malek, Neva H ^k   Horn, Denise ^d   Carr, Christopher W ^e   Abdul Rahman, Omar A ^f   O'Donnell, Sherindan ^a   Burgess, Trent ^g   Shaw, Marie ^h   Gecz, Jozef ^h   Bain, Nicole ⁱ   Fagan, Kerry ^i,j   Hunter, Matthew F ^a,j  

^a Hunter Genetics   (Australia)

^b JOHN HUNTER CHILDREN S HOSPITAL   (Australia)

^c Core Interventions Occupational Therapy Services ^*  (Australia)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

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

^g VCGS Pathology   (Australia)

^h UNIVERSITY OF ADELAIDE   (Australia)

ⁱ JOHN HUNTER HOSPITAL   (Australia)

^j UNIVERSITY OF NEWCASTLE   (Australia)

^k NONE

more..

Author keywords

3p13; Chromosomal microdeletion; FOXP1; Intellectual disability; Speech language pathology

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXP1; UNCLASSIFIED DRUG;

APRAXIA; ARTICLE; AUTISM; BEHAVIOR DISORDER; BROAD FOREHEAD; CASE REPORT; CHILD; CHROMOSOME G BAND; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DISEASE SEVERITY; DOWNWARD PALPEBRAL SLANT; FACE MALFORMATION; FAILURE TO THRIVE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXP1 GENE; GENE DELETION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPE 46,XY; MACROCEPHALY; MALE; MEDICAL LITERATURE; MOTOR DYSFUNCTION; PATHOGENESIS; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT NOSE; SPEECH DELAY;

PASSERI;

3P13; CHROMOSOMAL MICRODELETION; FOXP1; INTELLECTUAL DISABILITY; SPEECH-LANGUAGE PATHOLOGY;

ANIMALS; AUTISTIC DISORDER; CHILD; DEVELOPMENTAL DISABILITIES; FORKHEAD TRANSCRIPTION FACTORS; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MICE; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; SEQUENCE DELETION;

EID: 84888066687     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36174     Document Type: Article

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