BRANCHIOOTORENAL (BOR) SYNDROME - VARIABLE EXPRESSIVITY IN A 5-GENERATION PEDIGREE
BRANCHIOOTORENAL (BOR) SYNDROME - VARIABLE EXPRESSIVITY IN A 5-GENERATION PEDIGREE
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DOI：
10.1007/s004310050171
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发表时间：
1994-06-01
影响因子：
3.6
通讯作者：
DUKIET, C
中科院分区：
文献类型：
--
作者：
KONIG, R;FUCHS, S;DUKIET, C
一个五代同堂的鳃-耳-肾（BOR）综合征的家庭报告证明了这种综合征的巨大变异性。鳃-耳-输尿管综合征、鳃-耳-输尿管综合征和BOR综合征的症状见于该家族的不同成员，提示这些不是真实的实体，而是BOR综合征的变体。
A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchiooto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.