Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.

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Bibliographic Details
Title: Pathogenic variants in the IFT140 gene and an intriguing clinical presentation in two pediatric patients. Cases report and review of literature.
Authors: Koce, Maša1 (AUTHOR), Fakin, Ana2 (AUTHOR), Markelj, Špela2 (AUTHOR), Debeljak, Maruša3 (AUTHOR), Kovač, Jernej3 (AUTHOR), Lisec, Ajda4 (AUTHOR), Bertok, Sara5 (AUTHOR), Meglič, Anamarija6 (AUTHOR) anamarija.meglic@mf.uni-lj.si
Source: Ophthalmic Genetics. Jun2025, Vol. 46 Issue 3, p285-292. 8p.
Database: Academic Search Ultimate
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Description
ISSN:13816810
DOI:10.1080/13816810.2025.2462987