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.
Poot, Martin
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
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