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Identification of missense MAB21L1 variants in microphthalmia and aniridia
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...
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| Pubblicato in: | Hum Mutat |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8238893/ https://ncbi.nlm.nih.gov/pubmed/33973683 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24218 |
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