The neuropathology and clinical phenotype of FTD withprogranulinmutations
β Scribed by Ian R. A. Mackenzie
- Book ID
- 106073525
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- English
- Weight
- 346 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0001-6322
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
We describe a child with lethal multiple malformations and generalised accumulation of desmosterol. The infant had macrocephaly, a hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and general
## Abstract Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterolβC5βdesaturase. Only two patients have been described to date, both presenting with multiple malformations, mental retardation, and liver involvement. In addition in one of them pathol