English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Plus monthly

Global: Zendy Tools annual

Global: Zendy Tools monthly

Global: Zendy Free Plan

ological findings, and family histories that are consistent with Xlinked inheritance and identification of a RS1 mutation [3]. Several Korean patients have been reported carrying the RS1 mutations [4-7]. In this report, we described a patient with exon 1 deletion of the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient’s mother is important for the genetic counseling of other family members and for the future reproductive plan. Exonic deletion in a carrier is not easy to identify when an appropriate commercial kit is not available. In this report, we did the multiplex ligation-dependent probe amplification (MLPA) analysis using peripheral leukocytes and confirmed the carrier state of the patient’s mother. A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis