RT Journal Article
SR Electronic
T1 De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 293
OP 295
DO 10.1136/jmg.32.4.293
VO 32
IS 4
A1 Hersh, J H
A1 Yen, F F
A1 Peiper, S C
A1 Barch, M J
A1 Yacoub, O A
A1 Voss, D H
A1 Roberts, J L
YR 1995
UL http://jmg.bmj.com/content/32/4/293.abstract
AB A female infant with thanatophoric dysplasia was found to have a de novo translocation involving chromosomes 1 and 10. The chromosome abnormality may represent an important clue in identifying the locus for the candidate gene responsible for this lethal skeletal dysplasia.