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...

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Detalles Bibliográficos
Autores principales: Berry, Vanita, Fujinami, Kaoru, Mochizuki, Kiyofumi, Iwata, Takeshi, Pontikos, Nikolas, Quinlan, Roy A., Michaelides, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Research Report
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

Internet

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

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