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Norrie disease resulting from a gene deletion: clinical features and DNA studies.

We describe a family in which two boys with Norrie disease have a deletion of the DXS7 locus. The deletion does not extend as far distally as the OTC or DXS84 loci. A full clinical description of the patients is given to help establish the range of manifestations of Norrie disease. There is no evide...

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Detaylı Bibliyografya
Asıl Yazarlar: Donnai, D, Mountford, R C, Read, A P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 1988
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015446/
https://ncbi.nlm.nih.gov/pubmed/3162283
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