SOX10 mutation with peripheral amyelination and developmental disturbance of axons

Muscle and Nerve

Volumn 45, Issue 2, 2012, Pages 284-290

  Parthey, Kathleen ^a   Kornhuber, Malte ^a   Kunze, Christian ^a   Wand, Dorothea ^a   Nolte, Kay W ^b   Nikolin, Stefan ^b   Weis, Joachim ^b   Schröder, Michael J ^b  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Central dysmyelination; Developmental disturbance of axons; Hirschsprung disease; Peripheral amyelination; SOX10 mutation; Waardenburg syndrome

Indexed keywords

MYELIN; TRANSCRIPTION FACTOR SOX10;

ARTICLE; CASE REPORT; CEREBELLUM HYPOPLASIA; DNA DETERMINATION; ELECTRON MICROSCOPY; GENE MUTATION; HIRSCHSPRUNG DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; MYELIN DEFICIENCY; NERVE FIBER; NERVOUS SYSTEM FUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIPHERAL AMYELINATION; PRIORITY JOURNAL; RECTUM BIOPSY; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE 4;

EID: 84855837547     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22262     Document Type: Article

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