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Phenotypic Variations in the 22q11 Deletion Syndrome — Study in a South Indian Population
Pilli, Satish V. S. S., Anuradha D., Nagesh N., , Kumar, Raghavannair Suresh,
Published in Springer India
2016
PMID: 26634267
Volume: 83
   
Issue: 7
Pages: 746 - 747
Abstract
[No abstract available]
About the journal
JournalData powered by TypesetIndian Journal of Pediatrics
PublisherData powered by TypesetSpringer India
ISSN00195456
Open AccessNo
Concepts (44)
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    DNA
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    Adolescent
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    Adult
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    ANORECTAL MALFORMATION
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    Case report
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    Child
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    CHILD HOSPITALIZATION
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    CHROMOSOME 22Q
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    CHROMOSOME DELETION 22Q11
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    CLINICAL FEATURE
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    Computer assisted tomography
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    CYANOSIS
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    Dna isolation
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    Electroencephalography
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    FACE DYSMORPHIA
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    FAILURE TO THRIVE
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    FALLOT TETRALOGY
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    Female
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    FLUORESCENCE IN SITU HYBRIDIZATION
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    FOOT MALFORMATION
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    HEART VENTRICLE SEPTUM DEFECT
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    Human
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    Indian
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    KARYOTYPING
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    Letter
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    LOW SET EAR
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    Male
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    MICROPHTHALMIA
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    MICROTIA
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    MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION
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    NOSE MALFORMATION
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    PHENOTYPIC VARIATION
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    Preschool child
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    Reverse transcription polymerase chain reaction
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    SPEECH DISORDER
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    Thymus
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    Young adult
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    BIOLOGICAL VARIATION
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    CHROMOSOME DELETION
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    India
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    22Q11 DELETION SYNDROME
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    BIOLOGICAL VARIATION, POPULATION
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    CHROMOSOME DELETION
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    Humans