Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A

European Journal of Medical Genetics

Volumn 58, Issue 6-7, 2015, Pages 351-354

  Balci, Tugce B ^a   Sawyer, Sarah L ^a   Davila, Jorge ^a   Humphreys, Peter ^a   Dyment, David A ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

2p15 16.1 microdeletion syndrome; BCL11A; CASK; Pontocerebellar hypoplasia

Indexed keywords

BCL11A PROTEIN; DNA; PROTEIN; UNCLASSIFIED DRUG; BCL11A PROTEIN, HUMAN; CARRIER PROTEIN; CASK KINASES; GUANYLATE KINASE; NUCLEAR PROTEIN;

ARTICLE; BASAL CISTERN; BODY DYSMORPHIC DISORDER; BRAIN FOURTH VENTRICLE; BRAIN MALFORMATION; BRAIN THIRD VENTRICLE; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHROMOSOME 2P; CHROMOSOME 2P16.1; CHROMOSOME DELETION; CISTERNA MAGNA; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DNA MICROARRAY; EAR DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; LATERAL BRAIN VENTRICLE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PONS; PREAURICULAR SKIN TAG; PRESCHOOL CHILD; RESPIRATORY DISTRESS; RESPIRATORY TRACT INTUBATION; TELECANTHUS; ABNORMALITIES; ABNORMALITIES, MULTIPLE; BRAIN; CHROMOSOME 2; CRANIOFACIAL ABNORMALITIES; GENETICS;

ABNORMALITIES, MULTIPLE; BRAIN; CARRIER PROTEINS; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CRANIOFACIAL ABNORMALITIES; FEMALE; GUANYLATE KINASE; HUMANS; NUCLEAR PROTEINS; PHENOTYPE;

EID: 84930415664     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.04.006     Document Type: Article

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