Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature.

Verheij, Johanna B G M

Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. [electronic resource] - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Jan 2006 - 11-7 p. digital

Publication Type: Case Reports; Journal Article

1090-3798

10.1016/j.ejpn.2005.10.004 doi


Brain--pathology
DNA-Binding Proteins--genetics
Demyelinating Diseases--diagnostic imaging
Female
Growth--physiology
High Mobility Group Proteins--genetics
Hirschsprung Disease--diagnostic imaging
Humans
Infant, Newborn
Magnetic Resonance Imaging
Muscle Hypotonia--genetics
Mutation
Neural Conduction--physiology
Neurologic Examination
Radiography
SOXE Transcription Factors
Syndrome
Transcription Factors--genetics
Waardenburg Syndrome--diagnostic imaging