De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

Authors

• J H Hersh
• F F Yen
• S C Peiper
• M J Barch
• O A Yacoub
• D H Voss
• J L Roberts

Publication/Presentation Date

4-1-1995

Abstract

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.

Volume

32

Issue

4

First Page

293

Last Page

295

ISSN

0022-2593

Published In/Presented At

Hersh, J. H., Yen, F. F., Peiper, S. C., Barch, M. J., Yacoub, O. A., Voss, D. H., & Roberts, J. L. (1995). De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. Journal of medical genetics, 32(4), 293–295. https://doi.org/10.1136/jmg.32.4.293

Disciplines

Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods

PubMedID

7643360

Department(s)

Administration and Leadership

Document Type

Article