Pontocerebellar hypoplasia type 2 and TSEN2: Review of the literature and two novel mutations

European Journal of Medical Genetics

Volumn 56, Issue 6, 2013, Pages 325-330

  Bierhals, Tatjana ^a   Korenke, Georg Christoph ^b   Uyanik, Gökhan ^a,c   Kutsche, Kerstin ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b KLINIKUM OLDENBURG   (Germany)

^c HANUSCH HOSPITAL   (Austria)

Author keywords

Biallelic mutations; Pontocerebellar hypoplasia type 2; TRNA splicing endonuclease; TSEN2; TSEN34; TSEN54

Indexed keywords

ETIRACETAM; TOPIRAMATE; VALPROIC ACID; VIGABATRIN;

ALLELE; ARTICLE; BRAIN ATROPHY; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; CLINICAL ARTICLE; CODON; CYSTIC FIBROSIS; DISEASE SEVERITY; DYSKINESIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; GASTROSTOMY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; KARYOTYPING; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PONTOCEREBELLAR HYPOPLASIA TYPE 2; SEIZURE; TSEN2 GENE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; ENDORIBONUCLEASES; EXONS; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; SEQUENCE ALIGNMENT;

SYLVIA;

EID: 84878466584     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.03.009     Document Type: Article

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