Article
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.
Neuroscience - 13 Aug 2008
Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori C L, Patrosso M C, Zuffardi O, Ciccodicola A, Marchuk D A, Squitieri F
Abstract excerpt
The past few years have seen rapid advances in our understanding of the genetics and molecular biology of cerebral cavernous malformations (CCM) with the identification of the CCM1, CCM2, and CCM3 genes. Recently, we have recruited a patient with an X/3 balanced translocation that exhibits CCM. B...
Topics
- Adult
- Cell Line
- Chromosome Breakage
- Chromosomes, Human, Pair 3
- Databases, Protein
- Female
- Hemangioma, Cavernous, Central Nervous System
- Humans
- Leukocytes, Mononuclear
- Magnetic Resonance Imaging
- Membrane Proteins
- Phenotype
- Primary Ovarian Insufficiency