Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.

Hailey MairNicholas FowlerMaria E PapatzanakiPadmaja SudhakarMaldonado Ramiro S

Published in: Ophthalmic genetics (2022)

This study highlights the importance of including WFS1 sequencing in the evaluation of optic nerve atrophy to discover syndromic conditions.

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