ALSTROMS SYNDROME - FURTHER EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE AND ENDOCRINOLOGIC DYSFUNCTION
ALSTROMS SYNDROME - FURTHER EVIDENCE OF AUTOSOMAL RECESSIVE INHERITANCE AND ENDOCRINOLOGIC DYSFUNCTION
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DOI：
10.1136/jmg.27.9.590
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发表时间：
1990-09-01
影响因子：
4
通讯作者：
CLARK, P
中科院分区：
文献类型：
--
作者：
CHARLES, SJ;MOORE, AT;CLARK, P
我们报告一例Alstrom综合征合并甲状腺功能减退，并伴有失明、耳聋、肥胖和胰岛素依赖型糖尿病的基本特征。父母是近亲，一旦被移除，就加强了常染色体隐性遗传的可能性。
We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.