Article

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

2025-11-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Fraser syndrome (FS) is an autosomal recessive disorder, characterized by cryptophthalmos, syndactyly, and anomalies of the respiratory and urogenital tracts. Here we estimate the birth prevalence of FS in the French-Canadian founder population of Quebec, where no prevalence has been reported to date. We also describe the phenotype of probands with FS. <h4>Methods</h4> Pathoge...

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Literature Corpus work: ac5569a3-20ec-5ff7-8937-fd19e4c1094a
DOI: 10.1101/2025.10.30.25336922

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