Periventricular nodular heterotopia in Smith-Magenis syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 12, 2014, Pages 3142-3147

  Capra, Valeria ^a   Biancheri, Roberta ^a   Morana, Giovanni ^a   Striano, Pasquale ^b   Novara, Francesca ^c   Ferrero, Giovanni Battista ^d   Boeri, Luca ^a   Celle, Maria Elena ^a   Mancardi, Maria Margherita ^a   Zuffardi, Orsetta ^c,e   Parrini, Elena ^f   Guerrini, Renzo ^f,g  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

^g DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

17p11.2 chromosomal deletion; Periventricular nodular heterotopia (PNH); Smith Magenis syndrome (SMS)

Indexed keywords

ADOLESCENT; ANGER; ANTERIOR FONTANEL; ANTEVERTED NOSTRIL; ARTICLE; AUTOMUTILATION; BIRTH WEIGHT; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME DELETION; CISTERNA MAGNA; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONVULSION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; EYE MALFORMATION; FACE DYSMORPHIA; FETUS ECHOGRAPHY; FLNA GENE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERACTIVITY; LANGUAGE DELAY; MALE; MOTOR DYSFUNCTION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PREGNANCY DIABETES MELLITUS; PREGNANCY OUTCOME; PREGNANCY TOXEMIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SLEEP TIME; SMITH MAGENIS SYNDROME; TENDON REFLEX; BRAIN; CHROMOSOME 17; GENETICS; PATHOLOGY; RADIOGRAPHY;

ADOLESCENT; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; PERIVENTRICULAR NODULAR HETEROTOPIA; SMITH-MAGENIS SYNDROME;

EID: 84911181317     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36742     Document Type: Article

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