Bétend B, Scherrer M, Evrard A, Votan-Bonnamour B, Hermier M
Arch Fr Pediatr. 1978 Mar;35(3):269-79.
A girl who had all the clinical laboratory features of Lowe's syndrome is described. In the literature there are at least 5 other females recorded. They could arise by the preferential inactivation of the normal chromosome (lyon's hypothesis) or alternatively an autosomal dominant mode of inheritance with weak penetrance could be postulated.
本文描述了一名具有劳氏综合征所有临床实验室特征的女孩。文献中至少还记录了另外5名女性患者。她们可能是由于正常染色体的优先失活(莱昂假说)引起的,或者也可以假定为具有弱外显率的常染色体显性遗传模式。