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Volumn 45, Issue 3, 2011, Pages 185-188
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Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4
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Author keywords
[No Author keywords available]
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Indexed keywords
ADULT;
ARTICLE;
AUTOPSY;
AUTOSOMAL RECESSIVE DISORDER;
CASE REPORT;
CLINICAL FEATURE;
ECHOGRAPHY;
FEMALE;
GENE;
GENE MUTATION;
GESTATIONAL AGE;
HUMAN;
HYDRAMNIOS;
MICROCEPHALY;
MOLECULAR DIAGNOSIS;
MUSCLE HYPERTONIA;
NEUROLOGIC EXAMINATION;
NEWBORN;
NEWBORN DEATH;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PHENOTYPE;
PONTOCEREBELLAR HYPOPLASIA TYPE 4;
PREGNANCY;
PRENATAL DIAGNOSIS;
PRIORITY JOURNAL;
TSEN54 GENE;
ADULT;
BRAIN;
CEREBELLAR DISEASES;
CODON, NONSENSE;
ENDORIBONUCLEASES;
FATAL OUTCOME;
FEMALE;
HETEROZYGOTE;
HUMANS;
INFANT, NEWBORN;
MEDULLA OBLONGATA;
MICROCEPHALY;
MUSCLE HYPERTONIA;
POLYHYDRAMNIOS;
PONS;
PREGNANCY;
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EID: 80051536299
PISSN: 08878994
EISSN: 18735150
Source Type: Journal
DOI: 10.1016/j.pediatrneurol.2011.05.009 Document Type: Article |
Times cited : (8)
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References (8)
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