Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy

Brain and Development

Volumn 36, Issue 6, 2014, Pages 523-527

  Okamoto, Noriko ^a   Yamagata, Takanori ^a   Yada, Yukari ^a   Ichihashi, Ko ^a   Matsumoto, Naomichi ^b   Momoi, Mariko Y ^a   Mizuguchi, Takeshi ^b  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Cerebral and cerebellar dysplasia; Hypertrophic cardiomyopathy; Microarray comparative genomic hybridization analysis (aCGH); Williams syndrome

Indexed keywords

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CENTRAL NERVOUS SYSTEM; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; DYSPLASIA; ECHOCARDIOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; WILLIAMS BEUREN SYNDROME; BRAIN; CHROMOSOME 7; CHROMOSOME DELETION; FATALITY; GENETICS; MALE; MICROARRAY ANALYSIS; PATHOLOGY; PATHOPHYSIOLOGY;

BRAIN; CARDIOMYOPATHY, HYPERTROPHIC; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COMPARATIVE GENOMIC HYBRIDIZATION; ECHOCARDIOGRAPHY; FATAL OUTCOME; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MICROARRAY ANALYSIS; TOMOGRAPHY, X-RAY COMPUTED; WILLIAMS SYNDROME;

EID: 84901632690     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2013.07.002     Document Type: Article

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