Jg. Hall et E. Lopezraugel, BONE DYSPLASIAS, NONTRADITIONAL MECHANISMS OF INHERITANCE AND MONOZYGOTIC TWINS, Pediatric radiology, 27(5), 1997, pp. 422-427
Citations number
39
Categorie Soggetti
Radiology,Nuclear Medicine & Medical Imaging",Pediatrics
New developments in the area of cytogenetics and molecular genetics ha
ve suggested a variety of newly recognized mechanisms that result in h
uman genetic disorders. These mechanisms are being observed among indi
viduals with bone dysplasias. Mosaicism imprinting, parent-of-origin d
ifferences, uniparental disomy (UPD) and monozygotic twinning represen
t mechanisms which modify the phenotypic expression of the bone dyspla
sia.