Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

Kraoua, Lilia

Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. [electronic resource] - European journal of medical genetics - e446-50 p. digital

Publication Type: Case Reports; Journal Article

1878-0849

10.1016/j.ejmg.2011.04.007 doi


Adolescent
Angelman Syndrome--genetics
Chromosome Banding
Chromosome Disorders--genetics
Chromosomes, Human, Pair 15--genetics
Humans
Male
Membrane Transport Proteins--genetics
Phenotype
Pigmentation Disorders--genetics
Prader-Willi Syndrome--genetics