Gianfrancesco, F

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. [electronic resource] - Neuroscience Aug 2008 - 345-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0306-4522

10.1016/j.neuroscience.2008.05.030 doi


Adult
Cell Line
Chromosome Breakage
Chromosomes, Human, Pair 3
Databases, Protein
Female
Hemangioma, Cavernous, Central Nervous System--genetics
Humans
Leukocytes, Mononuclear--cytology
Magnetic Resonance Imaging
Membrane Proteins--genetics
Phenotype
Primary Ovarian Insufficiency--complications
RNA, Messenger--metabolism
Signal Transduction--physiology
Translocation, Genetic
X Chromosome Inactivation--genetics