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Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
PURPOSE: Biallelic MAB21L1 variants have been reported to cause autosomal recessive cerebellar, ocular, craniofacial, and genital syndrome (COFG), whereas only five heterozygous pathogenic variants have been suspected to cause autosomal dominant (AD) microphthalmia and aniridia in eight families. Th...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Association for Research in Vision and Ophthalmology
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10010443/ https://www.ncbi.nlm.nih.gov/pubmed/36892533 http://dx.doi.org/10.1167/iovs.64.3.19 |