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Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning a...
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| Päätekijät: | , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
BMJ Group
2000
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734650/ https://ncbi.nlm.nih.gov/pubmed/10922387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.8.600 |
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