| Autor: |
Moreira-Filho, C A, Neustein, I |
| Zdroj: |
Journal of Medical Genetics; Apr1979, Vol. 16 Issue 2, p125-128, 4p, 1 Black and White Photograph, 1 Diagram, 3 Charts |
| Abstrakt: |
The present report describes a Brazilian Negro sibship with six males affected by a presumptive new variant of Norrie's disease, an X-linked congenital oculo-acoustical-cerebral degeneration. In addition to the typical stigmata of the disease, all the patients were microcephalic and two of them had cryptorchidism. Possible non-genetic aetiology was investigated with negative results. Xg blood group studies were informative and the lod scores are given, together with those for two previously reported families with Norrie's disease. [ABSTRACT FROM PUBLISHER] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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