PT  - JOURNAL ARTICLE
AU  - Hersh, J H
AU  - Yen, F F
AU  - Peiper, S C
AU  - Barch, M J
AU  - Yacoub, O A
AU  - Voss, D H
AU  - Roberts, J L
TI  - De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.
AID  - 10.1136/jmg.32.4.293
DP  - 1995 Apr 01
TA  - Journal of Medical Genetics
PG  - 293--295
VI  - 32
IP  - 4
4099  - http://jmg.bmj.com/content/32/4/293.short
4100  - http://jmg.bmj.com/content/32/4/293.full
SO  - J Med Genet1995 Apr 01; 32
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.