Probable Cornelia de Lange syndrome with progressive parkinsonism and dystonia
β Scribed by Hubert H. Fernandez; Joseph H. Friedman; Edward V. Famiglietti
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 572 KB
- Volume
- 15
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
β¦ Synopsis
FIG. 1.
High-field T2-weighted axial MRI. Small bilateral hyperintense lesions involving both the pallidum and putamen are shown.
π SIMILAR VOLUMES
## Abstract Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the __NIPBL__ gene have been disco
## Abstract Xβlinked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton agammaglobulinemia tyrosine kinase gene that results in severe Bβcell deficiency. So far, neurological complications of XLA have been primarily related to acute and/or chronic cen
Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multisystem abnormalities. Sixty percent of probands with CdLS have heterozygous mutations in the Nipped-B-like (NIPBL) gene, 5% have mutations in the SMC1A gene, and one proband was found to have a mutat