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Three patients with ring (X) chromosomes and a severe phenotype.
Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical pict...
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| Gepubliceerd in: | J Med Genet |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BMJ Publishing Group
1993
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016421/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8326492/ https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.6.482 |
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