RT Journal Article
SR Electronic
T1 Thanatophoric dysplasia in identical twins.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 276
OP 279
DO 10.1136/jmg.26.4.276
VO 26
IS 4
A1 I D Young
A1 I Patel
A1 A C Lamont
YR 1989
UL http://jmg.bmj.com/content/26/4/276.abstract
AB Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.