Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2016-2019

  Wang, David ^a   Zeesman, Susan ^b   Tarnopolsky, Mark A ^b   Nowaczyk, Małgorzata J M ^b  

^a UNIVERSITY OF TORONTO   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

Author keywords

1q43q44; AKT3; Duplication; Intellectual disability; Macrocephaly

Indexed keywords

PROTEIN KINASE B;

AKT3 GENE; ALEXANDER DISEASE; APHASIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOMAL LOCALIZATION; CHROMOSOME 1Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; GAIT DISORDER; GENE; GENE DUPLICATION; GENE FUNCTION; GENETIC ANALYSIS; HIP DYSPLASIA; HUMAN; HYPERTELORISM; LANGUAGE DELAY; LIP MALFORMATION; MACROCEPHALY; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SPEECH DELAY; WALKING DIFFICULTY;

1Q43Q44; AKT3; DUPLICATION; INTELLECTUAL DISABILITY; MACROCEPHALY;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HUMANS; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MACROCEPHALY; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-AKT;

EID: 84880759439     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35999     Document Type: Article

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