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A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family
BACKGROUND: Genetically determined cataract is both clinically and molecularly highly heterogeneous. Here, we have identified a heterozygous variant in the lens integral membrane protein LIM2, the second most abundant protein in the lens, responsible for congenital sutural/lamellar cataract in a thr...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Taylor & Francis
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9612932/ https://www.ncbi.nlm.nih.gov/pubmed/35736209 http://dx.doi.org/10.1080/13816810.2022.2090010 |