Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 15, 2007, Pages 1771-1774

  Battini, Roberta ^a   Chilosi, Anna ^a   Mei, Davide ^a   Casarano, Manuela ^a,b   Alessandrì, M Grazia ^a   Leuzzi, Vincenzo ^c   Ferretti, Giovanni ^a   Tosetti, Michela ^a   Cristina Bianchi, M ^d   Cioni, Giovanni ^a,b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF PISA   (Italy)

Author keywords

Creatine transporter (CT1) deficiency; Developmental verbal apraxia; SLC6A8 gene mutation; X linked mental retardation (XLMR)

Indexed keywords

CARRIER PROTEIN; CREATINE;

ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; DYSPRAXIA; GENE; GENE MUTATION; HUMAN; ITALY; LANGUAGE DISABILITY; MALE; MENTAL DEFICIENCY; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; SCHOOL CHILD; SLC6A8 GENE; SPEECH DISORDER;

ANTICONVULSANTS; APRAXIAS; CHILD; HUMANS; INTELLIGENCE TESTS; MALE; MEMBRANE TRANSPORT PROTEINS; MENTAL RETARDATION; MUTATION; SEIZURES;

EID: 34547697690     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31827     Document Type: Article

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