Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia

Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands...

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Detalhes bibliográficos
Publicado no:Ann Lab Med
Main Authors: Bae, Kunho, Song, Ju Sun, Lee, Chung, Kim, Nayoung K.D., Park, Woong-Yang, Kim, Byoung Joon, Ki, Chang-Seok, Kim, Sang Jin
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5500744/
https://ncbi.nlm.nih.gov/pubmed/28643494
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2017.37.5.438
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