MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus

Brain and Development

Volumn 36, Issue 1, 2014, Pages 64-69

  Saito, Mari ^a   Yamagata, Takanori ^a   Matsumoto, Ayumi ^a   Shiba, Yusuke ^a   Nagashima, Masako ^a   Taniguchi, Shuhei ^a   Jimbo, Eriko ^a   Momoi, Mariko Y ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

Author keywords

Hypotonia; Monoamine oxidase (MAO); Serotonin; Severe developmental delay; Short stature; Sudden loss of muscle tone

Indexed keywords

AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME A; AMINE OXIDASE (FLAVIN CONTAINING) ISOENZYME B; CATECHOLAMINE; DOPAMINE; NORADRENALIN; RISPERIDONE; SEROTONIN;

ARTICLE; AUTISM; AUTOMUTILATION; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONVERGENT STRABISMUS; CRYPTORCHISM; DEVELOPMENTAL DISORDER; DSM-IV; ELECTROENCEPHALOGRAM; EPICANTHUS; GESTATIONAL AGE; HAND MOVEMENT; HUMAN; INTERMITTENT STRABISMUS; MALE; MONOAMINE OXIDASE A AND B DELETION SYNDROME; MUSCLE ATONIA; MUSCLE HYPOTONIA; NEWBORN JAUNDICE; NORRIE DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PHOTOTHERAPY; POLYDACTYLY; PRESCHOOL CHILD; SEROTONIN BLOOD LEVEL; SHORT STATURE; SIBLING; SLEEP DISORDER;

HYPOTONIA; MONOAMINE OXIDASE (MAO); SEROTONIN; SEVERE DEVELOPMENTAL DELAY; SHORT STATURE; SUDDEN LOSS OF MUSCLE TONE;

CATECHOLAMINES; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HUMANS; MALE; MONOAMINE OXIDASE; MUSCLE HYPOTONIA; SEROTONIN; SIBLINGS;

EID: 84890878256     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.01.004     Document Type: Article

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