Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

European Journal of Human Genetics

Volumn 18, Issue 10, 2010, Pages 1095-1099

  Whibley, Annabel ^a   Urquhart, Jill ^b   Dore, Jonathan ^b   Willatt, Lionel ^c   Parkin, Georgina ^c   Gaunt, Lorraine ^b   Black, Graeme ^b   Donnai, Dian ^b   Raymond, F Lucy ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

abnormal hand movement; array CGH; MAOA and MAOB; monoamine oxidase; X chromosome

Indexed keywords

LAMOTRIGINE;

ARTICLE; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CONVERGENT STRABISMUS; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HAND MOVEMENT; HUMAN; MALE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME;

CHROMOSOMES, HUMAN, X; DEVELOPMENTAL DISABILITIES; DYSKINESIAS; EPILEPSY; GENE DELETION; HUMANS; MALE; MENTAL RETARDATION; MONOAMINE OXIDASE; MUSCLE HYPOTONIA; POLYMERASE CHAIN REACTION; STEREOTYPED BEHAVIOR;

EID: 77957166470     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.41     Document Type: Article

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