具有不完全显性X连锁疾病的散发病例的复发风险。

Genet Epidemiol. 1986;3(5):357-64. doi: 10.1002/gepi.1370030508.

The recurrence risks for an X-linked disease with incomplete penetrance are evaluated for a sib given that an isolated proband (male or female) is affected. The derived formulae are applied to the X-linked form of Alport and fragile X syndromes.

对于一种具有不完全外显率的X连锁疾病，在已知有一个散发性先证者（男性或女性）患病的情况下，评估其同胞的复发风险。推导的公式应用于X连锁型Alport综合征和脆性X综合征。