Cardiovascular Research Center, Developmental Biology Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA.
Am J Cardiol. 2010 Mar 1;105(5):681-6. doi: 10.1016/j.amjcard.2009.10.034.
We report on the long QT syndrome occurring in conjunction with nontoxic multinodular goiter and sensorineural deafness in several siblings of a large family. Autosomal and X-linked recessive and dominant modes of inheritance are possible for the different phenotypes. The affected family members had various phenotype combinations, suggesting variable expressivity and incomplete penetrance.
我们报告了一个大家族中几个兄弟姐妹同时发生长 QT 综合征、非毒性多结节性甲状腺肿和感觉神经性耳聋的病例。不同表型可能存在常染色体和 X 连锁隐性和显性遗传方式。受影响的家族成员具有不同的表型组合，提示存在可变表达和不完全外显率。
