A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.
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Child, Preschool↗
Biomedical subjects
Publications and source records attributed to M Tieder.
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A 30 year-old, mentally retarded female presented with uncontrolled seizures. The diagnosis of pseudohypoparathyroidism was established on grounds of clinical, laboratory and radiological evaluation. Despite normalization of serum calcium levels with vitamin D treatment, the patient continued to suffer from frequent convulsions. The possible pathogenesis of the therapy-resistant seizures and the therapeutic approach are discussed.
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