TSEN54 mutations cause pontocerebellar hypoplasia type 5

European Journal of Human Genetics

Volumn 19, Issue 6, 2011, Pages 724-726

  Namavar, Yasmin ^a   Chitayat, David ^b,c   Barth, Peter G ^a   Van Ruissen, Fred ^a   De Wissel, Marit B ^a   Poll The, Bwee Tien ^a   Silver, Rachel ^b   Baas, Frank ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b MOUNT SINAI HOSPITAL   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

PCH4; PCH5; pontocerebellar hypoplasia; TSEN54; vermal hypoplasia

Indexed keywords

TRANSFER RNA; TRANSFER RNA SPLICING ENDONUCLEASE SUBUNIT 54; UNCLASSIFIED DRUG;

ARTICLE; AUTOPSY; CASE REPORT; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; NERVE DEGENERATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PONTOCEREBELLAR HYPOPLASIA TYPE 2; PONTOCEREBELLAR HYPOPLASIA TYPE 4; PONTOCEREBELLAR HYPOPLASIA TYPE 5; PRIORITY JOURNAL; RNA SPLICING;

CEREBELLUM; ENDORIBONUCLEASES; FEMALE; FETUS; HETEROZYGOTE; HUMANS; MUTATION; OLIVARY NUCLEUS; OLIVOPONTOCEREBELLAR ATROPHIES; PEDIGREE; PONS; PREGNANCY;

EID: 79956307284     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.8     Document Type: Article

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