TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

Acta Neuropathologica

Volumn 121, Issue 5, 2011, Pages 671-673

  Simonati, Alessandro ^a   Cassandrini, Denise ^b   Bazan, Diana ^a   Santorelli, Filippo Maria ^b  

^a UNIVERSITY OF VERONA   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE; TRNA SPLICING ENDONUCLEASE 54; UNCLASSIFIED DRUG;

ALLELE; CASE REPORT; CEREBELLUM HYPOPLASIA; CHILD; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; ELECTROCARDIOGRAPHY; FEMALE; GENE FUNCTION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; INFANT; LETTER; MALE; MUTATOR GENE; NEUROPATHOLOGY; PHENOTYPE; PONTOCEREBELLAR HYPOPLASIA TYPE 1; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; TRNA SPLICING ENDONUCLEASE 54 GENE;

CEREBELLUM; CHILD; ENDORIBONUCLEASES; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; PEDIGREE; PONS; SEVERITY OF ILLNESS INDEX;

EID: 79958093277     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-011-0823-1     Document Type: Letter

References (5)

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5. Namavar Y, Barth PG, Kasher PR et al (2011) Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 134:143-156