Brown-Vialetto-Van Laere syndrome: Clinical and neuropathologic findings with immunohistochemistry for C20orf54 in Three affected patients

Pediatric and Developmental Pathology

Volumn 16, Issue 5, 2013, Pages 364-371

  Malafronte, Patrick ^a   Clark, H Brent ^b   Castaneda Sanchez, Irene ^c   Jack, Raisanen ^a   Hatanpaa, Kimmo J ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL CENTER   (United States)

^c Cook Children's Hospital ^*  (United States)

Author keywords

Brown Vialetto Van Laere syndrome; C20orf54; Neurosensory deafness; Pontobulbar palsy

Indexed keywords

CHROMOSOME 20 OPEN READING FRAME 54; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; BRAIN ATROPHY; BROWN VIALETTO VAN LAERE SYNDROME; CASE REPORT; CHILD; CONTROLLED STUDY; DEGENERATIVE DISEASE; FEMALE; GENE MUTATION; HUMAN; IMMUNOHISTOCHEMISTRY; IRRITABILITY; MALE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; QUADRIPLEGIA; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; WEAKNESS;

AGE OF ONSET; BULBAR PALSY, PROGRESSIVE; CHILD, PRESCHOOL; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; YOUNG ADULT;

EID: 84888163505     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/13-02-1299-CR.1     Document Type: Article

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