Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 162, Issue 1, 2013, Pages 17-23

  Lo Castro, Adriana ^a   Brancati, Francesco ^a,b,c   Digilio, Maria Cristina ^d   Garaci, Francesco Giuseppe ^a   Bollero, Patrizio ^a   Alfieri, Paolo ^d   Curatolo, Paolo ^a  

^a TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

16q24.3 deletion; ANKRD11; Autism spectrum disorders; Epilepsy; KBG syndrome; Mental retardation; Neurobehavioral phenotype

Indexed keywords

ALPRAZOLAM; ARIPIPRAZOLE; ESCITALOPRAM; METHYLPHENIDATE; QUETIAPINE; VALPROIC ACID;

ADOLESCENT; ANKRD11 GENE; ANXIETY; ARTICLE; ATTENTION DEFICIT DISORDER; BRACHYDACTYLY; CASE REPORT; CHILD; COGNITION; COGNITIVE THERAPY; COMMUNICATION SKILL; CONTROLLED STUDY; CYANOSIS; EXECUTIVE FUNCTION; FETUS DISTRESS; GENE; GENE MUTATION; GENETIC DISORDER; HIRSUTISM; HUMAN; HYPOCALCEMIA; INTELLECTUAL IMPAIRMENT; IRRITABILITY; KBG SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIDE EFFECT; SKELETON MALFORMATION; SOMNOLENCE; TONIC CLONIC SEIZURE; UMBILICAL HERNIA; VAGINA BLEEDING; WEIGHT REDUCTION; WORKING MEMORY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BEHAVIOR; BONE DISEASES, DEVELOPMENTAL; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; COGNITION; FACIES; HUMANS; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PHENOTYPE; REPRESSOR PROTEINS; TOOTH ABNORMALITIES; YOUNG ADULT;

EID: 84871346342     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32113     Document Type: Article

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