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Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings
BACKGROUND: Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant homozygously. Clinical characteristics of patients with bialleli...
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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434607/ https://ncbi.nlm.nih.gov/pubmed/32441891 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1308 |
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