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A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case

Emile R Vieta-Ferrer1, Ehsan Ullah2, Delphine Blain1

  • 1Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

Ophthalmic Genetics
|March 23, 2023
PubMed
Abstract

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