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Response to Iliff et al.

机译:对Iliff等的回应。

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摘要

We thank Iliff et al. for their interest in our work, and we are pleased to reply. We reported that a mutation in MIR184 (MIM 613146) causes autosomal-dominant kera-toconus with early-onset anterior polar cataracts (KTCNCT [MIM 614303]) in a large Irish family.1 The corresponding authors described a US family with a similar ocular pheno-type of endothelial dystrophy, iris hypoplasia, congenital cataracts, and stromal thinning (EDICT syndrome), a phenotype which they have since found to be caused by the same mutation.2 We do not know whether the mutations have arisen independently or whether the families are distantly related.
机译:我们感谢伊利夫等。感谢他们对我们工作的兴趣,我们很高兴答复。我们报道说,在爱尔兰的一个大家庭中,MIR184(MIM 613146)的突变导致常染色体显性角膜锥突与早发的前极性白内障(KTCNCT [MIM 614303])。1相应的作者描述了一个美国家庭,其眼睛相似内皮营养不良的表型,虹膜发育不全,先天性白内障和间质变薄(EDICT综合征),此后便发现它们是由同一突变引起的表型。2我们不知道这些突变是否独立发生或家庭关系密切。

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