Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities

Neurogenetics

Volumn 16, Issue 2, 2015, Pages 145-149

  Salvarinova, Ramona ^a,d   Ye, Cynthia X ^a,b,c,d   Rossi, Andrea ^e   Biancheri, Roberta ^e   Roland, Elke H ^a,d   Pavlidis, Paul ^d   Ross, Colin J ^a,b,c,d   Tarailo Graovac, Maja ^a,b,c,d   Wasserman, Wyeth W ^a,b,c,d   van Karnebeek, Clara D M ^a,b,d  

^a Oak Tree Clinic   (Canada)

^b UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^c University of British Columbia and the Children s and Women s Hospital and Health Centre of British Columbia   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^e G GASLINI INSTITUTE   (Italy)

Author keywords

Cerebral atrophy; Developmental delay; Epilepsy; Genomics; Hypomyelination; Microcephaly

Indexed keywords

AMINOACYL TRANSFER RNA; ANTICONVULSIVE AGENT; AMINO ACID TRANSFER RNA LIGASE; ANTICODON;

ANTICODON; ARTICLE; AWARENESS; BRAIN ATROPHY; BRAIN DEVELOPMENT; CASE REPORT; CEREBELLUM; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; DISEASE COURSE; EPILEPSY; GENETIC ANALYSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRONEPHROSIS; INTRACTABLE EPILEPSY; LOSS OF FUNCTION MUTATION; MALE; MICROCEPHALY; MYELINATION; NONSENSE MUTATION; PATENT FORAMEN OVALE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; BRAIN; CONGENITAL MALFORMATION; FAMILY; GENETIC PREDISPOSITION; GENETICS; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

AMINO ACYL-TRNA SYNTHETASES; ANTICODON; BRAIN; CHILD; FAMILY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROCEPHALY; MUTATION; PHENOTYPE;

EID: 84925496800     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-014-0432-y     Document Type: Article

References (8)

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