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1. Hypomyelination and Congenital Cataract: Identification of a Novel likely pathogenic c.414+1G>A in FAM126A gene Variant.

Author

Troncoso M, Balut F, Witting S, Rubilar C, Carrera J, Cartes F, and Herrera L

Abstract

It is key to expand the differential diagnosis and consider possible genetic etiologies on a patient with congenital cataracts associated with clinical features, such as leukodystrophy or polyneuropathy., Competing Interests: None of the authors declare any conflict of interest., (© 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)

Published
2021
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