Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation

Journal of the Peripheral Nervous System

Volumn 22, Issue 3, 2017, Pages 219-223

  Bogdanova Mihaylova, Petya ^a   Alexander, Michael D ^a   Murphy, Raymond P J ^a   Murphy, Sinéad M ^a,b  

^a ADELAIDE AND MEATH HOSPITAL   (Ireland)

^b TRINITY COLLEGE DUBLIN   (Ireland)

Author keywords

hereditary motor and sensory neuropathy; Hirschsprung disease; HMSN; SOX 10; Waardenburg syndrome

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL ARTICLE; GENE; GENE MUTATION; GENETIC SCREENING; HAMMER TOE; HIRSCHSPRUNG DISEASE; HUMAN; IRIS DISEASE; IRIS HETEROCHROMIA; MALE; NERVE CONDUCTION VELOCITY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PES CAVUS; PRIORITY JOURNAL; RARE DISEASE; SENSORIMOTOR NEUROPATHY; SOX10 GENE; WAARDENBURG SYNDROME; WASTING SYNDROME; ARACHNOID CYST; ATROPHY; CEREBELLUM; COMPLICATION; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; NERVE CONDUCTION; PATHOPHYSIOLOGY; PIGMENT DISORDER;

SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADULT; ARACHNOID CYSTS; ATROPHY; CEREBELLUM; DNA MUTATIONAL ANALYSIS; HIRSCHSPRUNG DISEASE; HUMANS; IRIS DISEASES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEURAL CONDUCTION; PIGMENTATION DISORDERS; SOXE TRANSCRIPTION FACTORS; WAARDENBURG SYNDROME;

EID: 85021978359     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/jns.12221     Document Type: Article

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