Clinical application of whole-exome sequencing: A novel autosomal recessive spastic ataxia of Charlevoix-Saguenay sequence variation in a child with ataxia

JAMA Neurology

Volumn 70, Issue 6, 2013, Pages 788-791

  Liew, Wendy K M ^a   Ben Omran, Tawfeg ^b   Darras, Basil T ^a   Prabhu, Sanjay P ^a   De Vivo, Darryl C ^c   Vatta, Matteo ^d   Yang, Yaping ^d   Eng, Christine M ^c   Chung, Wendy K ^c  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b WEILL CORNELL MEDICAL COLLEGE   (Qatar)

^c NewYork Presbyterian Hospital   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CHILD; CHROMOSOME 12; CONSANGUINITY; EXOME; FALLING; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; HOMOZYGOSITY; HUMAN; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; SACS GENE; SEQUENCE ANALYSIS; SPASTICITY; TREMOR; UNSTEADY GAIT; WHOLE EXOME SEQUENCING;

EID: 84878787858     PISSN: 21686149     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaneurol.2013.247     Document Type: Article

References (7)

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