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. 1990 Dec;27(12):729–737. doi: 10.1136/jmg.27.12.729

Alagille syndrome and deletion of 20p.

F Anad 1, J Burn 1, D Matthews 1, I Cross 1, B C Davison 1, R Mueller 1, M Sands 1, D M Lillington 1, E Eastham 1
PMCID: PMC1017275  PMID: 2074558

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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