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Volumn 512, Issue 2, 2013, Pages 453-455
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Angelman syndrome and severe infections in a patient with de novo 15q11.2-q13.1 deletion and maternally inherited 2q21.3 microdeletion
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Author keywords
15q11.2 q13.1; 2q21.3; Angelman syndrome; Infection; Microdeletion
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Indexed keywords
ARTICLE;
BACTERIAL MENINGITIS;
CASE REPORT;
CHILD;
CHROMOSOME ANALYSIS;
CHROMOSOME DELETION;
COMPARATIVE GENOMIC HYBRIDIZATION;
DEVELOPMENTAL DISORDER;
DISEASE SEVERITY;
EXTRACHROMOSOMAL INHERITANCE;
FACE DYSMORPHIA;
FEBRILE CONVULSION;
FEMALE;
GENE;
GENE DELETION;
HAPPY PUPPET SYNDROME;
HUMAN;
INFECTION;
MUSCLE HYPOTONIA;
OSTEOMYELITIS;
PHENOTYPE;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
RECURRENT DISEASE;
SEPTICEMIA;
STAPHYLOCOCCUS AUREUS;
ADENOSINE TRIPHOSPHATASES;
ANGELMAN SYNDROME;
CHROMOSOME ABERRATIONS;
CHROMOSOMES, HUMAN, PAIR 15;
FEMALE;
HUMANS;
INFANT;
INFECTION;
INTELLECTUAL DISABILITY;
MALE;
MEMBRANE TRANSPORT PROTEINS;
RECEPTORS, GABA-A;
UBIQUITIN-PROTEIN LIGASES;
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EID: 84870321658
PISSN: 03781119
EISSN: 18790038
Source Type: Journal
DOI: 10.1016/j.gene.2012.10.061 Document Type: Article |
Times cited : (13)
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References (8)
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