Deciphering the role of heterozygous mutations in genes associated with parkinsonism
β Scribed by Christine Klein; Katja Lohmann-Hedrich; Ekaterina Rogaeva; Michael G Schlossmacher; Anthony E Lang
- Book ID
- 114408674
- Publisher
- The Lancet
- Year
- 2007
- Tongue
- English
- Weight
- 191 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1474-4465
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## Abstract Mutations or deletions involving __ZFHX1B__ (previously __SIP1__) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients with the characteristic facial phenotype and
FIG. 1. MRI showed symmetric (A) hypointensity signal on T1weighted imaging and (B) hyperintensity signal on T2-weighted imaging in bilateral substantia nigra on admission. A repeated MRI after 3 months showed resolution of the lesions on (C) T2-weighted imaging and (D) T1-weighted imaging.