| Autor: |
Anad, F, Burn, J, Matthews, D, Cross, I, Davison, B C, Mueller, R, Sands, M, Lillington, D M, Eastham, E |
| Zdroj: |
Journal of Medical Genetics; Dec1990, Vol. 27 Issue 12, p729-737, 9p, 3 Black and White Photographs, 2 Diagrams, 2 Charts |
| Abstrakt: |
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. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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