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Article

Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2023

Cui Ricky Z, Hodge David O, Mohney Brian G

Abstract excerpt

PURPOSE: To investigate the population-based incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis. METHODS: Patients newly diagnosed with Marfan syndrome in Olmsted County, Minnesota, from January 1, 1976, through December 31, 2005, were identified through medical records review. Outcome measures were Marfan incidence, de novo mutation rate, risk of ectopia lentis. RESULTS: Marfan...

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Identifiers

PMID: 37716433
DOI: 10.1016/j.jaapos.2023.07.006
PMCID: PMC11000121

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