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  • 总部: 泰国曼谷市巴吞汪区仑披尼分区 普勒吉路齐隆巷5号.
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VAN DEN BOSCH SYNDROME

VAN DEN BOSCH SYNDROME

The components of this syndrome, which is transmitted as an X-linked recessive, as described by Van den Bosch (1959) are: (1) mental deficiency, (2) choroideremi...

The components of this syndrome, which is transmitted as an X-linked recessive, as described by Van den Bosch (1959) are: (1) mental deficiency, (2) choroideremia, (3) acrokeratosis verruciformis, (4) anhidrosis, and (5) skeletal deformity. An interesting and possibly important point is that at least 3 of these 5 components have been described as isolated X-linked traits. The syndrome has been observed in a single kindred. Close linkage of several loci and a small X-chromosome deletion would explain this disorder as a 'contiguous gene syndrome.' The availability of increasingly refined banding techniques might permit testing this idea.

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