Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception. [electronic resource]
- European journal of medical genetics
- 27-30 p. digital
Publication Type: Case Reports; Journal Article
1878-0849
10.1016/j.ejmg.2008.11.002 doi
Adult Brain--growth & development Cell Adhesion Molecules, Neuronal Chromosome Aberrations Chromosome Mapping Chromosomes, Human, Pair 6 Cytogenetic Analysis--methods Face--physiopathology Family Health Female Humans Receptor, Cannabinoid, CB1 Somatosensory Disorders--genetics Speech Disorders--genetics