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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434607/ https://www.ncbi.nlm.nih.gov/pubmed/32441891 http://dx.doi.org/10.1002/mgg3.1308 |