TY  - GEN
AU  - Verheij,Johanna B G M
AU  - Sival,Deborah A
AU  - van der Hoeven,Johannes H
AU  - Vos,Yvonne J
AU  - Meiners,Linda C
AU  - Brouwer,Oebele F
AU  - van Essen,Anthonie J
TI  - Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
SN  - 1090-3798
PY  - 2006///0621
KW  - Brain
KW  - pathology
KW  - DNA-Binding Proteins
KW  - genetics
KW  - Demyelinating Diseases
KW  - diagnostic imaging
KW  - Female
KW  - Growth
KW  - physiology
KW  - High Mobility Group Proteins
KW  - Hirschsprung Disease
KW  - Humans
KW  - Infant, Newborn
KW  - Magnetic Resonance Imaging
KW  - Muscle Hypotonia
KW  - Mutation
KW  - Neural Conduction
KW  - Neurologic Examination
KW  - Radiography
KW  - SOXE Transcription Factors
KW  - Syndrome
KW  - Transcription Factors
KW  - Waardenburg Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejpn.2005.10.004
ER  -