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Article

Identification of missense MAB21L1 variants in microphthalmia and aniridia

11 May 2021

Abstract excerpt

Microphthalmia, coloboma, and aniridia are congenital ocular phenotypes with a strong genetic component but often unknown cause. We present a likely causative novel variant in MAB21L1, c.152G>T p.(Arg51Leu), in two family members with microphthalmia and aniridia, as well as novel or rare compound heterozygous variants of uncertain significance, c.184C>T p.(Arg62Cys)/c.-68T>C, and c.658G>C p.(Gly220Arg)/c.*529A>G,...

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PMID: 33973683
DOI: 10.1002/humu.24218

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