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...

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Detalles Bibliográficos
Autores principales: Wang, Panfeng, Wu, Pengsen, Wang, Junwen, Zeng, Yiyan, Jiang, Yi, Wang, Yingwei, Li, Shiqiang, Xiao, Xueshan, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2023
Materias:
Biochemistry and Molecular Biology
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

Internet

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

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