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Mental retardation syndrome with renal concentration deficiency and intracerebral calcification
1Department of Paediatrics, Universitätskliniken, Mainz, Federal Republic of Germany.
European Journal of Pediatrics
|April 1, 1990
Abstract:
Two siblings are reported with a unique association of nephrogenic diabetes insipidus, intracerebral calcifications, defective psychomotor development, dwarfism and peculiar facial appearance. The disorder is to be differentiated from similar disorders, notably the Cockayne syndrome.