Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly

Journal of Medical Genetics

Volumn 53, Issue 11, 2016, Pages 735-742

  Pengelly, Reuben J ^a   Greville Heygate, Stephanie ^b   Schmidt, Susanne ^c   Seaby, Eleanor G ^a   Jabalameli, M Reza ^a   Mehta, Sarju G ^d   Parker, Michael J ^e   Goudie, David ^f   Fagotto Kaufmann, Christine ^c   Mercer, Catherine ^b   Debant, Anne ^c   Ennis, Sarah ^a   Baralle, Diana ^b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

^c UNIV MONTPELLIER   (France)

^d CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^f NINEWELLS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; RAC1 PROTEIN;

ARTICLE; ATAXIC GAIT; ATTENTION DEFICIT DISORDER; CHILD; CLINICAL ARTICLE; CLINODACTYLY; DEVELOPMENTAL DISORDER; EXOME; EYELID DISEASE; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENOMICS; HEART SEPTUM DEFECT; HEART VENTRICLE EXTRASYSTOLE; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INTELLECTUAL IMPAIRMENT; LIP MALFORMATION; LONG PHILTRUM; MALE; MICROCEPHALY; MISSENSE MUTATION; PATENT FORAMEN OVALE; PRIORITY JOURNAL; PTOSIS; RADIUS APLASIA; SHORT NOSE; SYNDACTYLY; TONIC CLONIC SEIZURE;

EID: 84978818678     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2016-103942     Document Type: Article

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