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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: Mizobuchi, Kei, Hayashi, Takaaki, Yoshitake, Kazutoshi, Fujinami, Kaoru, Tachibana, Toshiaki, Tsunoda, Kazushige, Iwata, Takeshi, Nakano, Tadashi
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2020
Pynciau:
Clinical Reports
Mynediad Ar-lein: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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