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FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Am J Hum Genet 85:414-8 (2009)
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Clin Genet 98:515-516 (2020)
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J Med Genet 48:375-82 (2011)
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Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

PLoS Genet 7:e1002278 (2011)
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