Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43-q44 CNV and a review of the literature

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 171, Issue 3, 2016, Pages 458-467

  Hemming, Isabel A ^a   Forrest, Alistair R R ^a,b   Shipman, Peter ^c   Woodward, Karen J ^d   Walsh, Peter ^c   Ravine, David G ^d   Heng, Julian Ik Tsen ^a,b  

^a PATHWEST LABORATORY MEDICINE   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

AKT3; Brain disorder; FAM36A COX20; HNRNPU; ZNF238

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CEREBRAL PALSY; CHROMOSOME 1Q; CHROMOSOME DELETION; CLEFT PALATE; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; GENE FREQUENCY; GENETIC ASSOCIATION; HIP DISLOCATION; HUMAN; INGUINAL HERNIA; INHERITANCE; MACROCEPHALY; MACROGYRIA; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MICROGNATHIA; NEUROIMAGING; NEURONAL MIGRATION DISORDER; OSTEOTOMY; PHENOTYPE; PRIORITY JOURNAL; RETROGNATHIA; SCOLIOSIS; SEIZURE; SYSTEMATIC REVIEW; BRAIN DISEASE; CHROMOSOME 1; CORPUS CALLOSUM; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; PATHOLOGY;

BRAIN DISEASES; CHROMOSOMES, HUMAN, PAIR 1; CORPUS CALLOSUM; DNA COPY NUMBER VARIATIONS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INHERITANCE PATTERNS; MICROCEPHALY; SEIZURES; SEQUENCE DELETION;

EID: 84961208461     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32427     Document Type: Article

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