Alagille syndrome and deletion of 20p.
- 1 December 1990
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (12) , 729-737
- https://doi.org/10.1136/jmg.27.12.729
Abstract
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.This publication has 15 references indexed in Scilit:
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