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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Detalles Bibliográficos
Autores principales: Seese, Sarah E., Reis, Linda M., Deml, Brett, Griffith, Christopher, Reich, Adi, Jamieson, Robyn V., Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238893/
https://www.ncbi.nlm.nih.gov/pubmed/33973683
http://dx.doi.org/10.1002/humu.24218

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8238893/
https://www.ncbi.nlm.nih.gov/pubmed/33973683
http://dx.doi.org/10.1002/humu.24218

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