Alagille syndrome and deletion of 20p.

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 famil...

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Spremljeno u:
Bibliografski detalji
Izdano u:J Med Genet
Glavni autori: Anad, F, Burn, J, Matthews, D, Cross, I, Davison, B C, Mueller, R, Sands, M, Lillington, D M, Eastham, E
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 1990
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017275/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2074558/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.27.12.729
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