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Volumn 51, Issue 3, 2014, Pages 434-436
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A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the stil gene found postnatally with exome analysis
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Author keywords
genetic testing; microcephaly; prenatal microcephaly; STIL
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Indexed keywords
AGYRIA;
AMNION CELL;
ARTICLE;
BODY WEIGHT;
BRAIN MALFORMATION;
CASE REPORT;
CEREBELLUM HYPOPLASIA;
CONGENITAL MALFORMATION;
CORPUS CALLOSUM AGENESIS;
DIFFERENTIAL DIAGNOSIS;
DISEASE SEVERITY;
ELECTROENCEPHALOGRAPHY;
EXOME;
FETUS;
FETUS ECHOGRAPHY;
FRONTAL LOBE;
GENE;
GENE MUTATION;
GENOME ANALYSIS;
GESTATIONAL AGE;
HEAD CIRCUMFERENCE;
HETEROZYGOTE;
HOLOPROSENCEPHALY;
HUMAN;
HYDRANENCEPHALY;
HYPSARRHYTHMIA;
KARYOTYPING;
MALE;
MICROCEPHALY;
MUSCLE HYPOTONIA;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PRENATAL PERIOD;
PRIORITY JOURNAL;
SCHIZENCEPHALY;
SEQUENCE ANALYSIS;
STIL GENE;
TEMPORAL LOBE;
ABNORMALITIES;
ADULT;
BRAIN;
DNA MUTATIONAL ANALYSIS;
FEMALE;
GENETICS;
MICROARRAY ANALYSIS;
NEWBORN;
PATHOLOGY;
PREGNANCY;
SIGNAL PEPTIDE;
STIL PROTEIN, HUMAN;
ADULT;
BRAIN;
DIAGNOSIS, DIFFERENTIAL;
DNA MUTATIONAL ANALYSIS;
EXOME;
FEMALE;
HETEROZYGOTE;
HUMANS;
INFANT, NEWBORN;
INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS;
KARYOTYPING;
MAGNETIC RESONANCE IMAGING;
MALE;
MICROARRAY ANALYSIS;
MICROCEPHALY;
PREGNANCY;
ULTRASONOGRAPHY, PRENATAL;
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EID: 84907363958
PISSN: 08878994
EISSN: 18735150
Source Type: Journal
DOI: 10.1016/j.pediatrneurol.2014.05.023 Document Type: Article |
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Times cited : (8)
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References (3)
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