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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Bibliografiska uppgifter
Huvudupphovsmän: Gohlke, B, Haug, K, Fukami, M, Friedl, W, Noeker, M, Rappold, G, Haverkamp, F
Materialtyp: Artigo
Språk:Inglês
Publicerad: BMJ Group 2000
Ämnen:
Short Report
Länkar: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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