Peripheral neuropathy with chronic intestinal pseudo-obstruction and deafness: A developmental 'neural crest syndrome' related to a SOX10 mutation

Annals of Neurology

Volumn 48, Issue 4, 2000, Pages 671-676

  Pingault, Véronique ^a   Guiochon Mantel, Anne ^b   Bondurand, Nadège ^a   Faure, Christophe ^c   Lacroix, Catherine ^b   Lyonnet, Stanislas ^d   Goossens, Michel ^a   Landrieu, Pierre ^b  

^a HENRI MONDOR HOSPITAL   (France)

^b BICÊTRE HOSPITAL   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; DNA BINDING PROTEIN; HIGH MOBILITY GROUP PROTEIN; SOX-10 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX10;

ADULT; ARTICLE; CASE REPORT; DEVELOPMENTAL DISORDER; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; INTESTINE PSEUDOOBSTRUCTION; MYELINATION; NERVE LESION; NEURAL CREST; OLIGODENDROGLIA; PERIPHERAL NERVE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SCHWANN CELL; AMINO ACID SEQUENCE; GENETICS; INFANT; KARYOTYPING; MOLECULAR GENETICS; MUTATION; MYELIN SHEATH; NERVE CONDUCTION; PATHOLOGY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY; SYNDROME; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; DEAFNESS; DNA-BINDING PROTEINS; FEMALE; HIGH MOBILITY GROUP PROTEINS; HUMANS; INFANT; INTESTINAL PSEUDO-OBSTRUCTION; KARYOTYPING; MOLECULAR SEQUENCE DATA; MUTATION; MYELIN SHEATH; NEURAL CONDUCTION; NEURAL CREST; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0034295096     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200010)48:4<671::AID-ANA17>3.0.CO;2-8     Document Type: Article

References (18)

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