Impaired autonomic control of the heart by SOX10 mutation

European Journal of Pediatrics

Volumn 160, Issue 1, 2001, Pages 68-69

  Korsch, Eckhard ^a   Steinkuhle, Jutta ^a   Massin, Martial ^b   Lyonnet, Stanislas ^c   Touraine, Renaud L ^d  

^a UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^b UNIVERSITY OF LIÈGE   (Belgium)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔPITAL NORD   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; NUCLEOTIDE;

ADOLESCENT; ARTICLE; AUTONOMIC DYSFUNCTION; AUTONOMIC NEUROPATHY; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ECHOCARDIOGRAPHY; GENE; GENE MUTATION; HEART INNERVATION; HEART RATE VARIABILITY; HUMAN; PATHOGENESIS; PRIORITY JOURNAL; SCORING SYSTEM; SOX 10 GENE;

ADOLESCENT; AUTONOMIC NERVOUS SYSTEM; DNA-BINDING PROTEINS; HEART RATE; HIGH MOBILITY GROUP PROTEINS; HUMANS; MUTATION; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0035167769     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310000624     Document Type: Article

References (5)

1. SOX10, a novel transcriptional modulator in glial cells
2. Normal ranges of heart rate variability during infancy and childhood
3. SOX10 mutations in patients with Waardenburg-Hirschsprung disease
4. SOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
5. Neurological phenotype in Waardenburg type 4 syndrome correlates with novel SOX10 truncating mutations and expression in developing brain